All individuals with variants in gene PCCB

199 entries on 2 pages. Showing entries 1 - 100.
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Age at death     

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00019901 - PubMed: Gilissen 2014 - ? ? - - - - - - ID Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features. 1 1 Marianne Vos (LOVD-team)
00104050 - - - - - - - - - - - ? propionic acidemia with adult-onset dilated cardiomyopathy 2 1 Moniek Riemersma
00104078 p1 - - - - - - - - - - acidemia, propionic - 2 1 Lourdes R. Desviat
00104079 ? - - - - - - - - - - acidemia, propionic - 1 1 Lourdes R. Desviat
00104080 p3 - - - - - - - - - - acidemia, propionic - 1 1 Lourdes R. Desviat
00104081 02249848-539 PubMed: Lamhonwah 1990 - - - - - - - - - acidemia, propionic cell line no PCC activity 2 1 Johan den Dunnen
00104082 02249848-453CE PubMed: Lamhonwah 1990 - - - - white - - - - acidemia, propionic cell line no PCC activity 1 1 Johan den Dunnen
00104083 02249848-500LS PubMed: Lamhonwah 1990 - - - - white - - - - acidemia, propionic cell line no PCC activity 1 1 Johan den Dunnen
00104084 02249848-3088JL PubMed: Lamhonwah 1990 - - - - white - - - - acidemia, propionic cell line no PCC activity 1 1 Johan den Dunnen
00104085 02154743-pccBC519 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104086 02154743-pccBC534 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104087 02154743-pccBC1747 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104088 02154743-pccC467 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104089 02154743-pccC543 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104090 02154743-pccC572 PubMed: Tahara 1990 sib of 02154743-pccC576 - - (United States) white - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104091 02154743-pccC756 PubMed: Tahara 1990 sib of 02154743-pccC572 - - (United States) white - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104092 02154743-pccC1752 PubMed: Tahara 1990 - - - (United States) white - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104093 08411997-J113 PubMed: Tahara 1993 - - - Japan - - - - - acidemia, propionic - 2 2 Johan den Dunnen
00104094 08411997-J146 PubMed: Tahara 1993 sib of 08411997-J171 - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104095 08411997-J171 PubMed: Tahara 1993 sib of 08411997-J146 - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104096 08225321-338 PubMed: Ohura 1993, PubMed: Ohura 1993 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104097 08295402-83 PubMed: Ohura 1993 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104098 08295402-212 PubMed: Ohura 1993 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104099 08295402-276 PubMed: Ohura 1993 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104100 08295402-187 PubMed: Ohura 1993 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104101 08411997-2267 PubMed: Tahara 1993 - - - - white;Hispanic - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104102 08411997-3007 PubMed: Tahara 1993 - - - - white - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104103 07789958-Pat187 PubMed: Ohura 1995 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104104 08023851-535 PubMed: Gravel 1994 - - - United States Amish - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104105 08023851-445 PubMed: Gravel 1994 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104106 08023851-500 PubMed: Gravel 1994 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104107 08023851-3138 PubMed: Gravel 1994 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104108 08023851-8913 PubMed: Gravel 1994 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104109 08023851-539 PubMed: Gravel 1994 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104110 09452096-APJ PubMed: Hoenicka 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104111 09452096-SSL PubMed: Hoenicka 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104112 09452096-pats PubMed: Hoenicka 1998 - - - Spain - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104113 09683601-ALT PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104114 09683601-CBV PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104115 09683601-MRA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104116 09683601-LMC PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104117 09683601-DTV PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104118 09683601-SSL PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104119 09683601-APJ PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104120 09683601-PRG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104121 09683601-NGA PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104122 09683601-SVL PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104123 09683601-CTG PubMed: Muro 2001, PubMed: Perez 2003 - - - Spain - - - - - acidemia, propionic - 4 1 Johan den Dunnen
00104124 09683601-LGA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104125 09683601-JGG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104126 09683601-FM PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104127 09683601-VMP PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 3 1 Johan den Dunnen
00104128 09683601-AJA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104129 09683601-GA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104130 09683601-EAC PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104131 09683601-PPM PubMed: Rodriguez-Pombo 1998 - - - Ecuador - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104132 09683601-PVD PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104133 09683601-DMS PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104134 09683601-HMM PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104135 09683601-PHH PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104136 09683601-CJF PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 3 1 Johan den Dunnen
00104137 09683601-MBG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104138 09683601-OVE PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104139 09683601-HM PubMed: Rodriguez-Pombo 1998 - - - Brazil - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104140 09683601-LVA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104141 09683601-MV PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104142 10820128-Pat6 PubMed: Ravn 2000 - - - Greenland Inuit - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104143 10820128-pop PubMed: Ravn 2000 - - - Greenland Inuit - - - - Healthy/Control - 1 15 Johan den Dunnen
00104144 11749052-ASF PubMed: Muro 2001 - - - Spain - - - - - acidemia, propionic - 3 1 Johan den Dunnen
00104145 10447268-AML PubMed: Muro 1999 - - - Spain - - - - - acidemia, propionic - 3 1 Johan den Dunnen
00104146 10447268-JRC PubMed: Muro 1999 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104147 10447268-EE PubMed: Muro 1999 family, 4 affecteds - - Austria - - - - - acidemia, propionic - 2 4 Johan den Dunnen
00104148 12189489-Pat1 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104149 12189489-Pat2 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104150 12189489-Pat3 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104151 12189489-Pat4 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104152 12189489-Pat5 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104153 12189489-Pat6 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104154 12189489-Pat7 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104155 12189489-Pat8 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104156 12189489-Pat9 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104157 12189489-Pat10 PubMed: Yorifuji 2002 - - - Japan - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104158 12409268-Pat1 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104159 12409268-Pat2 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104160 12409268-Pat3 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104161 12409268-Pat4 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104162 12409268-Pat5 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104163 12409268-Pat6 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104164 12409268-Pat7 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104165 12409268-Pat8 PubMed: Kim 2002 - - - Korea - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104166 12559849-15491 PubMed: Perez 2003 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104167 12559849-15108 PubMed: Perez 2003 - - - Spain - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104168 12559849-17094 PubMed: Perez 2003 - - - Spain - - - - - acidemia, propionic - 4 1 Johan den Dunnen
00104169 12559849-16787 PubMed: Perez 2003 - - - Spain Basque - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104170 12559849-16485 PubMed: Perez 2003 - - - Italy - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104171 12559849-15814 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104172 12559849-15815 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104173 12559849-14582 PubMed: Perez 2003 - - - Austria - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104174 12559849-14762 PubMed: Perez 2003 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
00104175 12559849-14763 PubMed: Perez 2003 - - - United States - - - - - acidemia, propionic - 2 1 Johan den Dunnen
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