Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family

Molecular Vision

Volumn 17, Issue , 2011, Pages 144-152

  Yao, Ke ^a   Li, Jinyu ^a   Jin, Chongfei ^a   Wang, Wei ^a   Zhu, Yanan ^a   Shentu, Xingchao ^a   Wang, Qiwei ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BETA CRYSTALLIN; GENOMIC DNA; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT CONGENITAL POSTERIOR SUBCAPSULAR CATARACT; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYBB2 GENE; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHASE TRANSITION; PHENOTYPE; PHOTOGRAPHY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SLIT LAMP; SUBCAPSULAR CATARACT;

ALANINE; BETA-CRYSTALLIN B CHAIN; CATARACT; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; VALINE;

EID: 79551702511     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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