Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.

Colin Willoughby; L. Russell; J. Uitto; E.W. Jabs; G. Richard; F. Rouan; N. Brown; P. Chung; M. Ryynanen; S.J. Bale; J.J. DiGiovanna

doi:10.1086/339986

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.

Colin Willoughby
, L. Russell
, J. Uitto
, E.W. Jabs
, G. Richard
, F. Rouan
, N. Brown
, P. Chung
, M. Ryynanen
, S.J. Bale
, J.J. DiGiovanna

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

Original language	English
Pages (from-to)	1341-1348
Number of pages	8
Journal	The American Journal of Human Genetics
Volume	70(5)
Issue number	5
DOIs	https://doi.org/10.1086/339986
Publication status	Published - May 2002

ASJC Scopus subject areas

Genetics

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10.1086/339986

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title = "Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.",

author = "Colin Willoughby and L. Russell and J. Uitto and E.W. Jabs and G. Richard and F. Rouan and N. Brown and P. Chung and M. Ryynanen and S.J. Bale and J.J. DiGiovanna",

year = "2002",

month = may,

doi = "10.1086/339986",

language = "English",

volume = "70(5)",

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T1 - Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.

AU - Willoughby, Colin

AU - Russell, L.

AU - Uitto, J.

AU - Jabs, E.W.

AU - Richard, G.

AU - Rouan, F.

AU - Brown, N.

AU - Chung, P.

AU - Ryynanen, M.

AU - Bale, S.J.

AU - DiGiovanna, J.J.

PY - 2002/5

Y1 - 2002/5

UR - https://www.scopus.com/pages/publications/18344395853

U2 - 10.1086/339986

DO - 10.1086/339986

M3 - Article

SN - 0002-9297

VL - 70(5)

SP - 1341

EP - 1348

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 5

ER -

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.

ASJC Scopus subject areas

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