Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies

Chinese Journal of Medical Genetics

Volumn 21, Issue 1, 2004, Pages 32-34

  Jin, Tao ^a   Zou, Liu He ^a   Yang, Ling ^a   Dong, Wei Li ^a   Yu, Jie ^a   Lu, Lan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

BIGH3 gene; Corneal dystrophy; Mutation

Indexed keywords

ARTICLE; BIGH3 GENE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA SEQUENCE; EXON; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; TRANSFORMING GROWTH FACTOR BETA;

EID: 1042288413     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol, 1999,128: 747-754.
2. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet, 1997,15: 247-251.
3. Kim HS,Yoon SK, Cho BJ,et al. BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. Cornea, 2001, 20: 844-849.
4. Skonier J, Neubauer M, Madisen L, et al. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol, 1992,11: 511-522.
5. Mashima Y, Yamamoto S, Inoue Y, et al. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol, 2000,130: 516-517.
6. Kocak-Altintas AG, Kocak-Midillioglu I, Akarsu AN, et al. BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. Cornea, 2001,20: 64-68.