Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Item
http://www.wikidata.org/entity/Q37283958
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeCharacterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Epidemiology and molecular genetics of congenital cataractsA Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.Advancement of congenital cataract in the responsible gene.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lensesWhole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma.Identification of long non-coding RNA and mRNA expression in βΒ2-crystallin knockout mice.
P2860

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Item
http://www.wikidata.org/entity/Q37283958
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 30 July 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@en
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@nl
type
label
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@en
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@nl
prefLabel
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@en
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@nl
P1433
P1476
P2093
P2860
P304
P31
P478
P577
P698
P921
P932
P1433
P1476
Mutation analysis of congenita ...... new missense allele in CRYBB2.
@en
P2093
P2860
P304
P31
P478
P577
P698
P921
P932