Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy

Japanese Journal of Ophthalmology

Volumn 48, Issue 3, 2004, Pages 195-198

  Kobayashi, Akira ^a   Fujiki, Keiko ^b   Murakami, Akira ^b   Kato, Takuji ^b   Chen, Li Zhong ^b   Onoe, Hitoshi ^c   Nakayasu, Kiyoo ^b   Sakurai, Mayumi ^a   Takahashi, Mami ^a   Sugiyama, Kazuhisa ^a   Kanai, Atsushi ^b  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Onoe Eye Clinic   (Japan)

Author keywords

COL8A2 gene; Fuchs' dystrophy; Mutation screening; Polymorphous dystrophy

Indexed keywords

ARGININE; COLLAGEN TYPE 8; COLLAGEN TYPE 8A2; GENE PRODUCT; GLUTAMINE; METHIONINE; THREONINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENICITY; POLYMERASE CHAIN REACTION; POSTEIOR POLYMORPHOUS DYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCREENING; SEQUENCE ANALYSIS; SLIT LAMP; SPECULAR MICROSCOPY; VOLUNTEER;

AGED; AGED, 80 AND OVER; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; COLLAGEN TYPE VIII; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENE FREQUENCY; GLUTAMINE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; METHIONINE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; THREONINE;

EID: 2542462332     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-003-0063-6     Document Type: Article

References (9)

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