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The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsHereditary non-syndromic sensorineural hearing loss: transforming silence to soundConnexin gene pathology.Clouston Syndrome: 25-year follow-up of a patientHereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.Connexins, a new target in wound treatment.Overview of skin diseases linked to connexin gene mutations.Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.Connexins and pannexins in the integumentary system: the skin and appendages.A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.Congenital atrichia associated with situs inversus and mesocardiaFunctional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.Molecular cloning and evolutionary analysis of GJB6 in mammals.A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia?Cellular mechanisms of mutant connexins in skin disease and hearing loss.Immune system disturbances in Clouston syndrome.Disorders of Keratinization
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A novel connexin 30 mutation in Clouston syndrome
@ast
A novel connexin 30 mutation in Clouston syndrome
@en
A novel connexin 30 mutation in Clouston syndrome
@nl
type
label
A novel connexin 30 mutation in Clouston syndrome
@ast
A novel connexin 30 mutation in Clouston syndrome
@en
A novel connexin 30 mutation in Clouston syndrome
@nl
prefLabel
A novel connexin 30 mutation in Clouston syndrome
@ast
A novel connexin 30 mutation in Clouston syndrome
@en
A novel connexin 30 mutation in Clouston syndrome
@nl
P2093
P1476
A novel connexin 30 mutation in Clouston syndrome
@en
P2093
Frances J D Smith
Susan M Morley
W H Irwin McLean
P356
10.1046/J.0022-202X.2001.01689.X
P407
P577
2002-03-01T00:00:00Z
P5875
P6179
1025345650