✦ LIBER ✦

A Novel Connexin 26 Compound Heterozygous Mutation Results in Deafness

✍ Scribed by Kevin C. Harris; Christy B. Erbe; Jill B. Firszt; Valerie A. Flanary; Phillip A. Wackym

Book ID: 110084065
Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 88 KB
Volume: 112
Category: Article
ISSN: 0023-852X
DOI: 10.1097/00005537-200207000-00003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel compound heterozygous mutation i

A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay

✍ F.B. Müller; A. Tsianakas; C. Kuwert; B.P. Korge; N. Hunzelmann 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB

Molecular basis of childhood deafness re

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

✍ R. Rabionet; L. Zelante; N. López-Bigas; L. D'Agruma; S. Melchionda; G. Restagno 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 36 KB

Maternal origin of a de novo mutation of

Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness

✍ Shalev, Stavit A. ;Hujirat, Yasir 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

A Novel Mechanism for Connexin 26 Mutati

A Novel Mechanism for Connexin 26 Mutation Linked Deafness: Cell Death Caused by Leaky Gap Junction Hemichannels

✍ Benjamin C. Stong; Qing Chang; Shoeb Ahmad; Xi Lin 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 566 KB

A New De Novo Missense Mutation in Conne

A New De Novo Missense Mutation in Connexin 26 in a Sporadic Case of Nonsyndromic Deafness

✍ Paola Primignani; Luca Trotta; Pierangela Castorina; Faustina Lalatta; Domenico 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 374 KB

Novel mutations in the connexin 26 gene

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

✍ Kudo, Takayuki; Ikeda, Katsuhisa; Kure, Shigeo; Matsubara, Yoichi; Oshima, Takes 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients