Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2

Journal of Investigative Dermatology

Volumn 113, Issue 5, 1999, Pages 848-850

  Çelebi, Julide Tok ^a   Tanzi, Elizabeth L ^b   Yao, Ya Juan ^a   Michael, Elias J ^b   Peacocke, Monica ^a,c  

^a College of Physicians and Surgeons ^*  (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

K17; Pachyonychia congenita

Indexed keywords

KERATIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; KERATODERMA; NAIL DYSTROPHY; PRIORITY JOURNAL; SEBACEOUS CYST; ECTODERMAL DYSPLASIA; GENETICS; MALE; MISSENSE MUTATION; NAIL DISEASE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POINT MUTATION;

ADULT; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; KERATINS; MALE; MUTATION, MISSENSE; NAILS, MALFORMED; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 0033228745     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00762.x     Document Type: Article

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