A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family

Molecular Vision

Volumn 13, Issue , 2007, Pages 1822-1827

  Lin, Hui ^a,b   Hejtmancik, J Fielding ^b   Qi, Yanhua ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AQUAPORIN; ARGININE; GLYCINE; LYSINE;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CATARACTOGENESIS; CHINESE; CHROMOSOME 12; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MARKER GENE; MICROSATELLITE MARKER; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION;

AMINO ACID SUBSTITUTION; AQUAPORINS; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; EYE PROTEINS; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; LYSINE; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY;

EID: 34948835215     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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