Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
about
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkUnion makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.Genetic isolates in ophthalmic diseases.A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
P2860
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Evidence of a founder effect f ...... s pedigrees of Finnish origin.
@en
Evidence of a founder effect for the RETGC1
@nl
type
label
Evidence of a founder effect f ...... s pedigrees of Finnish origin.
@en
Evidence of a founder effect for the RETGC1
@nl
prefLabel
Evidence of a founder effect f ...... s pedigrees of Finnish origin.
@en
Evidence of a founder effect for the RETGC1
@nl
P2093
P50
P356
P1433
P1476
Evidence of a founder effect f ...... s pedigrees of Finnish origin.
@en
P2093
Dominique Ducroq
Fabienne Barbet
Marc Jeanpierre
Marja Hietala
Päivi Olsen
Sylvain Hanein
Sélim Hakiki
Tuija Lopponen
P304
P356
10.1002/HUMU.9067
P577
2002-10-01T00:00:00Z