A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2 [1]

Journal of Investigative Dermatology

Volumn 118, Issue 3, 2002, Pages 545-547

  Hashiguchi, Takaki ^a   Yotsumoto, Shinichi ^a   Shimada, Hidehiko ^a   Terasaki, Kenjiro ^a   Setoyama, Mitsuru ^a   Kobayashi, Keiko ^a   Saheki, Takeyori ^a   Kanzaki, Tamotsu ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; METHIONINE; VALINE;

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONGENITAL PACHYONYCHIA; DISEASE COURSE; GENE; HAIR; HISTOLOGY; HUMAN; KERATIN 17 GENE; KERATIN 6B GENE; KERATODERMA; LETTER; LYMPHOCYTE; MISSENSE MUTATION; NAIL DYSTROPHY; PHYSICAL EXAMINATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEBACEOUS CYST; TOOTH MALFORMATION;

EID: 0036122159     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01701.x     Document Type: Letter

References (12)

1. Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2
2. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type2
3. Pachyonychia congenita type 2: Keratin 17 mutation in a Japanese case
4. Pachyonychia congenita: A report of six cases in one family
5. Keratin 17 expression in the hard epithelial context of the hair and nail, and, its relevance for the pachyonychia congenita phenotype
6. Keratin 16 and keratin 17 mutations cause pachyonychia congenita
7. Keratin 17 gene expression during the murine hair cycles
8. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
9. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
10. Novel keratin 17 mutations in pachyonychia congenita type 2
11. Patterns of expression of keratin 17 in human epithelia: Dependency on cell position