✦ LIBER ✦

A Novel Mutation of POU3F4 Causes Congenital Profound Sensorineural Hearing Loss in a Large Chinese Family

✍ Scribed by Qiu-Ju Wang; Qing-Zhong Li; Shao-Qi Rao; Ya-Li Zhao; Hu Yuan; Wei-Yan Yang; Dong-yi Han; Yan Shen

Book ID: 110088061
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 712 KB
Volume: 116
Category: Article
ISSN: 0023-852X
DOI: 10.1097/01.mlg.0000215285.53045.24

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel splice site mutation in the RDX

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

✍ A. Eliot Shearer; Michael S. Hildebrand; Catherine J. Bromhead; Kimia Kahrizi; J 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 2 views

A novel mutation in AlphaA-crystallin (C

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

✍ Feng Gu; Weixiao Luo; Xin Li; Zhuoqun Wang; Shuang Lu; Meng Zhang; Baojian Zhao; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB

Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical exam

A novel DFNA5 mutation, IVS8+4 A>G, in t

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family

✍ J Cheng; DY Han; P Dai; HJ Sun; R Tao; Q Sun; D Yan; W Qin; HY Wang; XM Ouyang; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB

A novel mutation in the Espin gene cause

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

✍ Redouane Boulouiz; Yun Li; Hafid Soualhine; Omar Abidi; Abdelaziz Chafik; Gudrun 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 2 views

A novel mutation of keratin 9 in a large

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma

✍ X-H. He; X-N. Zhang; W. Mao; H-P. Chen; L-R. Xu; H. Chen; X-L. He; Y-P. Le 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB

Confirmation of genetic homogeneity of n

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

✍ K. Komatsu; N. Nakamura; M. Ghadami; N. Matsumoto; T. Kishino; T. Ohta; N. Niika 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 144 KB