Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

Carol Oh Adib; Brad Jones; Haihui Liao; Frances J.D. Smith; Rustum Solomon; Conleth A. Egan; Sancy Leachman

doi:10.1007/s00403-008-0840-7

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

Carol Oh Adib, Brad Jones, Haihui Liao, Frances J.D. Smith, Rustum Solomon, Conleth A. Egan, Sancy Leachman

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Pages (from-to)	211-214
Number of pages	4
Journal	Archives of Dermatological Research
Volume	300
Issue number	5
DOIs	https://doi.org/10.1007/s00403-008-0840-7
State	Published - Jun 2008
Externally published	Yes

ASJC Scopus subject areas

Dermatology

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10.1007/s00403-008-0840-7

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@article{279f1fa73d3349fbbb2b5b310127d85a,

title = "Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2",

author = "{Oh Adib}, Carol and Brad Jones and Haihui Liao and Smith, {Frances J.D.} and Rustum Solomon and Egan, {Conleth A.} and Sancy Leachman",

note = "Funding Information: Acknowledgments We would like to thank PC Project and DEBRA UK. Support for genetic testing and phenotypic characterization was obtained through PC Project, a U.S. 501(c)(3) public charity founded to develop a cure for pachyonychia congenita. The Epithelial Genetics Group is supported by the Pachyonychia Congenita Project (FJDS) and DEBRA UK.",

year = "2008",

month = jun,

doi = "10.1007/s00403-008-0840-7",

language = "English (US)",

volume = "300",

pages = "211--214",

journal = "Archives of Dermatological Research",

issn = "0340-3696",

publisher = "Springer Verlag",

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T1 - Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

AU - Oh Adib, Carol

AU - Jones, Brad

AU - Liao, Haihui

AU - Smith, Frances J.D.

AU - Solomon, Rustum

AU - Egan, Conleth A.

AU - Leachman, Sancy

N1 - Funding Information: Acknowledgments We would like to thank PC Project and DEBRA UK. Support for genetic testing and phenotypic characterization was obtained through PC Project, a U.S. 501(c)(3) public charity founded to develop a cure for pachyonychia congenita. The Epithelial Genetics Group is supported by the Pachyonychia Congenita Project (FJDS) and DEBRA UK.

PY - 2008/6

Y1 - 2008/6

UR - http://www.scopus.com/inward/record.url?scp=43549110700&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=43549110700&partnerID=8YFLogxK

U2 - 10.1007/s00403-008-0840-7

DO - 10.1007/s00403-008-0840-7

M3 - Article

C2 - 18347808

AN - SCOPUS:43549110700

SN - 0340-3696

VL - 300

SP - 211

EP - 214

JO - Archives of Dermatological Research

JF - Archives of Dermatological Research

IS - 5

ER -

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

ASJC Scopus subject areas

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