An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotypr in three Chinese families

Molecular Vision

Volumn 14, Issue , 2008, Pages 1234-1239

  Lui, Zhe ^a,b,c   Wang, Yi Qiang ^c   Gong, Qing Hua ^c   Xie, Li Xin ^c  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c SHANDONG EYE INSTITUTE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; GENOMIC DNA; THREONINE; THYMINE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA INDUCED PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA EXTRACTION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LATTICE CORNEA DYSTROPHY TYPE 1; MALE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; CYSTEINE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA;

EID: 47249104212     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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