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

Autoria(s): Willoughby, Colin; Russell, L.; Uitto, J.; Jabs, E.W.; Richard, G.; Rouan, F.; Brown, N.; Chung, P.; Ryynanen, M.; Bale, S.J.; DiGiovanna, J.J.
Data(s)

01/05/2002
Identificador

http://pure.qub.ac.uk/portal/en/publications/missense-mutations-in-gjb2-encoding-connexin26-cause-the-ectodermal-dysplasia-keratitisichthyosisdeafness-syndrome(a0a0a7ad-5425-42ce-85fe-7db83cb85276).html

http://dx.doi.org/10.1086/339986

http://www.scopus.com/inward/record.url?scp=18344395853&partnerID=8YFLogxK
Idioma(s)

eng
Direitos

info:eu-repo/semantics/restrictedAccess
Fonte

Willoughby , C , Russell , L , Uitto , J , Jabs , E W , Richard , G , Rouan , F , Brown , N , Chung , P , Ryynanen , M , Bale , S J & DiGiovanna , J J 2002 , ' Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome. ' The American Journal of Human Genetics , vol 70(5) , no. 5 , pp. 1341-1348 . DOI: 10.1086/339986
Palavras-Chave #/dk/atira/pure/subjectarea/asjc/1300/1311 #Genetics
Tipo

article
Acesso ao item digital