Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Jia, Xueyuan ^a   Zhang, Feng ^b   Bai, Jing ^a   Gao, Linghan ^a   Zhang, Xuelong ^a   Sun, Haiming ^a   Sun, Donglin ^a   Guan, Rongwei ^a   Sun, Wenjing ^a   Xu, Lidan ^a   Yue, Zhichao ^a   Yu, Yang ^a   Fu, Songbin ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

Autosomal dominant congenital cataract; Coralliform cataract; CRYGD; Linkage analysis; Whole exome sequencing

Indexed keywords

CHAPERONIN 60; MICROTUBULE ASSOCIATED PROTEIN 2; PROLINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; EXOME; EXON; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INDEL MUTATION; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; NONSENSE MUTATION; PROMOTER REGION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHINA; EXONS; GAMMA-CRYSTALLINS; GENETIC LINKAGE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84885006373     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-107     Document Type: Article

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