BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

Eye

Volumn 18, Issue 7, 2004, Pages 723-728

  El Ashry, M F ^a   Abd El Aziz, M M ^a   Ficker, L A ^a   Hardcastle, A J ^a   Bhattacharya, S S ^a   Ebenezer, N D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Corneal dystrophy; Genetics; Molecular; Mutation

Indexed keywords

CYTOSINE; DNA; THYMINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; ARTICLE; BANGLADESH; CASE REPORT; CORNEA DYSTROPHY; DISEASE CLASSIFICATION; DNA EXTRACTION; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 4344636068     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.eye.6701313     Document Type: Article

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