✦ LIBER ✦

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness

✍ Scribed by Melissa de Freitas Cordeiro-Silva; Andressa Barbosa; Marília Santiago; Mariana Provetti; Raquel Spinassé Dettogni; Thais Tristão Tovar; Eliete Rabbi-Bortolini; Iúri Drumond Louro

Publisher: Springer
Year: 2010
Tongue: English
Weight: 168 KB
Volume: 38
Category: Article
ISSN: 0301-4851
DOI: 10.1007/s11033-010-0231-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Large deletion of the GJB6 gene in deaf

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

✍ Delphine Feldmann; Françoise Denoyelle; Pierre Chauvin; Eréa-Noël Garabédian; Ré 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 2 views

Mutation analysis of the GJB2 (connexin

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness

✍ T. Antoniadi; K. Grønskov; A. Sand; A. Pampanos; K. Brøndum-Nielsen; M.B. Peters 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB 👁 2 views

Use of a multiplex PCR/sequencing strate

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness

✍ Wu, Bai-Lin ;Kenna, Margaret ;Lip, Va ;Irons, Mira ;Platt, Orah 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB

Ultrastructure of the Hair in Genetic Pr

Ultrastructure of the Hair in Genetic Prelingual Deafness Associated with the 35delG Mutation in the Connexin 26 Gene (GJB2)

✍ S. G. Zhuravskiy; A. A. Kurus; A. E. Taraskina; S. A. Ivanov 📂 Article 📅 2009 🏛 Springer US 🌐 English ⚖ 203 KB

Pyrosequencing for detection of mutation

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

✍ Alessandro Ferraris; Eric Rappaport; Rosa Santacroce; Eleanor Pollak; Ian Krantz 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 359 KB

Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In additio

New evidence for the correlation of the

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

✍ Sandra Iossa; Viviana Chinetti; Gennaro Auletta; Carla Laria; Maria De Luca; Mon 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB 👁 2 views

## Abstract The __GJB2__ gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell–cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. __GJB