Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Bückler corneal dystrophy

Chinese Journal of Medical Genetics

Volumn 26, Issue 3, 2009, Pages 245-248

  Li, Dandan ^a   Qi, Yan Hua ^a   Han, Qing ^a   Lin, Hui ^a   Zhao, Li Ming ^a   Zhang, Chun Mei ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

Heterozygote; Mutation; Reis b ckler corneal dystrophy; TGFBI gene

Indexed keywords

ASPARTIC ACID; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; POLYMERASE CHAIN REACTION; TGFBI GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; EXONS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCINE; HUMANS; MALE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA;

EID: 67649610693     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.03.002     Document Type: Article

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