✦ LIBER ✦

Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss

✍ Scribed by Akin Yilmaz; Sevda Menevse; Yildirim Bayazit; Recep Karamert; Volkan Ergin; Adnan Menevse

Publisher: Springer
Year: 2009
Tongue: English
Weight: 268 KB
Volume: 48
Category: Article
ISSN: 0006-2928
DOI: 10.1007/s10528-009-9314-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of mutations in the conne

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc

Four novel TMC1 (DFNB7/DFNB11) mutations

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

✍ E. Kalay; A. Karaguzel; R. Caylan; A. Heister; F.P.M. Cremers; C.W.R.J. Cremers; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB

Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in the northeast and

Two families with nonsyndromic low-frequ

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1

✍ Nicolas Gürtler; Yuil Kim; Anand Mhatre; Christoph Schlegel; Adolf Mathis; Rober 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 229 KB

Two Iranian families with a novel mutati

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

✍ Niloofar Bazazzadegan; Abraham M. Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Ni 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 701 KB

Erratum to: Novel mutations in the conne

Erratum to: Novel mutations in the connexin43 (GJA1) andGJA1pseudogene may contribute to nonsyndromic hearing loss

✍ Hui-Mei Hong; Jiann-Jou Yang; Jia-Ching Shieh; Mei-Ling Lin; Shuan-Yow Li 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 97 KB

Two novel missense mutations in the cyst

Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

✍ Leo A. J. Kluijtmans; Henk J. Blom; Godfried H. J. Boers; Bernard A. Oost; Frans 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 160 KB