An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI

Molecular Vision

Volumn 14, Issue , 2008, Pages 1298-1302

  Li, Dandan ^a   Qi, Yanhua ^a   Wang, Li ^a   Lin, Hui ^a   Zhou, Nan ^a   Zhao, Liming ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; GLYCINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; CLINICAL FEATURE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA EROSION; CORNEA OPACITY; CORNEA STROMA; EXON; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REIS BUCKLERS CORNEA DYSTROPHY; VISUAL SYSTEM EXAMINATION;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASPARTIC ACID; BASE SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA;

EID: 47749154079     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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