PMID- 10571744
OWN - NLM
STAT- MEDLINE
DCOM- 19991208
LR  - 20071114
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 113
IP  - 5
DP  - 1999 Nov
TI  - Mutation report: identification of a germline mutation in keratin 17 in a family 
      with pachyonychia congenita type 2.
PG  - 848-50
AB  - Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an
      autosomal dominant disorder characterized by hypertrophic nail dystrophy
      associated with focal keratoderma and multiple pilosebaceous cysts. It has been
      demonstrated that PC-2 is associated with germline mutations in the keratin 17
      (K17) gene and in its expression partner keratin 6b. In this report, we describe 
      a novel germline mutation in K17, M88T, in a family with PC-2.
FAU - Celebi, J T
AU  - Celebi JT
AD  - Department of Dermatology, Columbia University, College of Physicians & Surgeon, 
      New York, New York 10032, USA.
FAU - Tanzi, E L
AU  - Tanzi EL
FAU - Yao, Y J
AU  - Yao YJ
FAU - Michael, E J
AU  - Michael EJ
FAU - Peacocke, M
AU  - Peacocke M
LA  - eng
GR  - K-04 AG-00694/AG/NIA NIH HHS/United States
GR  - R0-1 CA-66693/CA/NCI NIH HHS/United States
GR  - R0-1 CA-70519/CA/NCI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Ectodermal Dysplasia/*genetics
MH  - Female
MH  - Humans
MH  - Keratins/*genetics
MH  - Male
MH  - Mutation, Missense/genetics
MH  - Nails, Malformed/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - S0022-202X(15)40661-X [pii]
AID - 10.1046/j.1523-1747.1999.00762.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1999 Nov;113(5):848-50. doi: 10.1046/j.1523-1747.1999.00762.x.