Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family

Molecular Vision

Volumn 15, Issue , 2009, Pages 38-44

  Jiang, Jin ^a,b   Jin, Chongfei ^a   Wang, Wei ^a   Tang, Xiajing ^a   Shentu, Xingchao ^a   Wu, Renyi ^a   Wang, Yao ^a   Xia, Kun ^c   Yao, Ke ^a  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c National Laboratory of Medical Genetics of China   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; MAJOR INTRINSIC PROTEIN 1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACTOGENESIS; CHINESE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONGENITAL CATARACT; DNA FLANKING REGION; DNA SEQUENCE; EYE EXAMINATION; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE ANALYSIS; SLIT LAMP;

AQUAPORINS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHINA; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICE SITES;

EID: 58449125533     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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