A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

Molecular Vision

Volumn 15, Issue , 2009, Pages 1521-1529

  Zhang, Li Yun ^a,c   Gong, Bo ^a   Tong, Jian Ping ^b   Fan, Dorothy Shu Ping ^a   Chiang, Sylvia Wai Yee ^a   Lou, Dinghua ^b   Lam, Dennis Shun Chiu ^a   Yam, Gary Hin Fai ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c PURDUE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CASEIN KINASE II; CYSTEINE; GAMMA CRYSTALLIN; GAMMA CRYSTALLIN D; PROLINE; SERINE; THREONINE; UNCLASSIFIED DRUG; CRYSTALLIN GAMMAD, HUMAN; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL STRAIN COS7; CELLULAR DISTRIBUTION; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONGENITAL CORRALIFORM CATARACT; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDROPHOBICITY; IMMUNOFLUORESCENCE; LENS EPITHELIUM; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; SOLUBILITY; WESTERN BLOTTING; WILD TYPE; ADULT; AMINO ACID SEQUENCE; ANTIBODY SPECIFICITY; ASIAN; BIOLOGY; CATARACT; CHEMISTRY; CHILD; FAMILY; GENETICS; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE; PRESCHOOL CHILD; PROTEIN TRANSPORT;

ADULT; AMINO ACID SEQUENCE; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GAMMA-CRYSTALLINS; HUMANS; HYDROPHOBICITY; INFANT; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; ORGAN SPECIFICITY; PEDIGREE; PROTEIN TRANSPORT; SERINE; SOLUBILITY;

EID: 68749095279     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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