The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
about
First molecular screening of deafness in the Altai Republic population.The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsAssembly of the cochlear gap junction macromolecular complex requires connexin 26.Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairmentConnexin gene pathology.A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyMolecular and physiological bases of the K+ circulation in the mammalian inner ear.Connexin-26 mutations in deafness and skin disease.Key functions for gap junctions in skin and hearing.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Connexins and gap junctions in the inner ear--it's not just about K⁺ recyclingConnexins and skin disease: insights into the role of beta connexins in skin homeostasis.The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban familyDisorders of Keratinization
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P2860
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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@zh-hans
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@zh-my
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name
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@en
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@nl
type
label
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@en
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@nl
prefLabel
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@en
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@nl
P2093
P2860
P1433
P1476
The novel R75Q mutation in the ...... ratoderma in a Turkish family.
@en
P2093
A Ghanbari
M Emiroglu
M Yuksel-Apak
P2860
P304
P356
10.1034/J.1399-0004.2002.620409.X
P577
2002-10-01T00:00:00Z