A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1143-1148

  Smith, Frances J D ^a   Jonkman, Marcel F ^b   Van Goor, Harry ^b   Coleman, Carrie M ^a   Covello, Seana P ^a   Uitto, Jouni ^a   McLean, W H Irwin ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN;

ARTICLE; CHROMOSOME 12Q; CHROMOSOME 17Q; CONTROLLED STUDY; CYTOSKELETON; ECTODERMAL DYSPLASIA; EPITHELIUM CELL; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; NAIL DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL;

FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; KERATINS; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; NAIL DISEASES; PEDIGREE; PHENOTYPE; SKIN DISEASES;

EID: 0031802077     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1143     Document Type: Article

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