Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene

Experimental Eye Research

Volumn 70, Issue 1, 2000, Pages 41-49

  Corden, Laura D ^a,b   Swensson, Ole ^c   Swensson, Beate ^c   Smith, Frances J D ^a,b   Rochels, Rainer ^c   Uitto, Jouni ^a   McLean, W H Irwin ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b Human Genetics Unit   (United Kingdom)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Corneal epithelium; Dominant negative mutations; K12 genomic sequence; Keratin; Meesmann's corneal dystrophy; Microsatellite marker

Indexed keywords

KERATIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA EPITHELIUM; FEMALE; GENE MUTATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

EID: 0033958844     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1006/exer.1999.0769     Document Type: Article

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