A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy

British Journal of Ophthalmology

Volumn 88, Issue 6, 2004, Pages 752-756

  Yoon, M K ^a,c   Warren, J F ^a   Holsclaw, D S ^a,b   Gritz, D C ^a,b   Margolis, T P ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b KAISER PERMANENTE MEDICAL CENTER   (United States)

^c Francis I Proctor Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; KERATIN; KERATIN 12; KERATIN 3; NUCLEOTIDE; SERINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; CORNEA DYSTROPHY; FEMALE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DUPLICATION; HUMANS; KERATIN-12; KERATINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE;

EID: 2642565303     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2003.032870     Document Type: Article

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