An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree

Molecular Vision

Volumn 17, Issue , 2011, Pages 3200-3207

  Gu, Zhensheng ^a   Zhao, Peiquan ^a   He, Guang ^b   Wan, Chunling ^b   Ma, Gang ^b   Yu, Ling ^c   Zhang, Juan ^b   Feng, Guoyin ^b   He, Lin ^b,d,e   Gao, Linghan ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c SOUTHWEST MEDICAL UNIVERSITY   (China)

^d Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^e FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; ASPARTIC ACID; GENOMIC DNA; GUANINE; HISTAMINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; ARTICLE; AVELLINO CORNEA DYSTROPHY; CHINESE; CHROMOSOME 5Q; CHROMOSOME 5Q31.2; CHROMOSOME MAP; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA EXTRACTION; EXON; FEMALE; GENE CONSTRUCT; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; LEUKOCYTE; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLIT LAMP;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 5; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC LINKAGE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 84862944223     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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