A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
about
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qA missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish familyMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.Cat-Map: putting cataract on the mapMolecular genetics of age-related cataract.Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3qMapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityMissense Mutations in CRYAB Are Liable for Recessive Congenital CataractsA Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsDeletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsA novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.Congenital cataracts and their molecular geneticsInitiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.Cystatin C, other markers of kidney disease, and incidence of age-related cataract.A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.Fine mapping of chromosome 9 locus associated with congenital cataract.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
P2860
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P2860
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@ast
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@en
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@nl
type
label
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@ast
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@en
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@nl
prefLabel
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@ast
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@en
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@nl
P2093
P2860
P356
P1476
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
@en
P2093
Billingsley G
Paterson AD
Schorderet DF
P2860
P304
P356
10.1086/318798
P407
P577
2001-02-05T00:00:00Z