✦ LIBER ✦

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

✍ Scribed by RamShankar, M. (author);Girirajan, S. (author);Dagan, O. (author);Ravi Shankar, H. M. (author);Jalvi, R. (author);Rangasayee, R. (author);Avraham, K. B. (author);Anand, A. (author)

Book ID: 121879961
Publisher: BMJ Publishing Group
Year: 2003
Tongue: English
Weight: 607 KB
Volume: 40
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmg.40.5.e68

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Contribution of connexin26 (GJB2) mutati

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

✍ RamShankar, M. (author);Girirajan, S. (author);Dagan, O. (author);Ravi Shankar, 📂 Article 📅 2003 🏛 BMJ Publishing Group 🌐 English ⚖ 607 KB

Low prevalence of GJB2 mutations in non-

Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India

✍ Koumudi Godbole; J. Hemavathi; Neelam Vaid; Anand N. Pandit; M. N. Sandeep; G. R 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 167 KB

GJB2 (connexin 26) gene mutations in Mor

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2–35delG mutation

✍ Omar Abidi; Redouane Boulouiz; Halima Nahili; Mohammed Ridal; Mohamed Noureddine 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 365 KB

Mutations in the connexin26/GJB2 gene ar

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

✍ Heinz Gabriel; Petra Kupsch; Jürgen Sudendey; Elke Winterhager; Klaus Jahnke; Jü 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible f

High frequency of connexin26 (GJB2) muta

High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India

✍ Anu Yamuna Joseph; T.J. Rasool 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 302 KB

Clinical phenotype and mutations in conn

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

✍ Cohn, Edward S.; Kelley, Philip M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.