A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family

Molecular Vision

Volumn 16, Issue , 2010, Pages 534-539

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

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

^b ZHEJIANG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MAJOR INTRINSIC PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VALINE; AQUAPORIN; AQUAPORIN 0; EYE PROTEIN; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGENITAL CATARACT; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; ADULT; AMINO ACID SEQUENCE; ASIAN; CATARACT; CHEMISTRY; CHINA; DOMINANT GENE; EXON; FAMILY; GENETIC PREDISPOSITION; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MOLECULAR GENETICS; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; AQUAPORINS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FAMILY; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 77952295312     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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