Phenotype #0000164684

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00216232
Associated disease	HGPS
Phenotype details	one patient's lymphocyte RNA analysed contained transcripts from the mutated allele only
Diagnosis/Initial	Hutchinson-Gilford progeria syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	HGPS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	WB 25% normal lamin-A
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-31 18:26:59 +02:00 (CEST)
Date last edited	2012-03-09 19:08:25 +01:00 (CET)

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