Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients

Eye

Volumn 23, Issue 4, 2009, Pages 895-903

  Mok, J W ^a   Kim, H S ^a   Joo, C K ^a,b  

^a The Catholic University of Korea   (South Korea)

^b The Catholic University of Korea   (South Korea)

Author keywords

COL8A2; Fuchs' corneal dystrophy; Korean; Mutation; Susceptibility

Indexed keywords

COLLAGEN TYPE 8; COLLAGEN TYPE 8 ALPHA2; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; KOREA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; COLLAGEN TYPE VIII; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENE FREQUENCY; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 65349126473     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.116     Document Type: Article

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