✦ LIBER ✦

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2

✍ Scribed by H Nakanishi; M Ohtsubo; S Iwasaki; Y Hotta; K Mizuta; H Mineta; S Minoshima

Book ID: 110888872
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 716 KB
Volume: 76
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2009.01257.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spectrum of USH2A mutations in Scandinav

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

✍ Bo Dreyer; Vigdis Brox; Lisbeth Tranebjærg; Thomas Rosenberg; Andrè M. Sadeghi; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 1 views

## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su

USH2A Mutation analysis in 70 Dutch fami

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

✍ Ronald J.E. Pennings; Heleen te Brinke; Michael D. Weston; Annemarie Claassen; D 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 1 views

Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis

Mutations in Myosin VIIA (MYO7A) and Ush

Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively

✍ Carmen Nájera; Magdalena Beneyto; José Blanca; Elena Aller; Ana Fontcuberta; Jos 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 1 views

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are

Identification and in vitro expression o

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

✍ Benigna von Brederlow; Hanno Bolz; Andreas Janecke; Alicia La O Cabrera; Günther 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

## Communicated by Albert de la Chapelle Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most se

Prevalence of arylsulphatase A mutations

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations

✍ K. Kurosawa; H. Ida; Y. Eto 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 32 KB

Identification of 11 novel mutations in

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

✍ YB Sohn; C-S Ki; C-H Kim; A-R Ko; Y-J Yook; S-J Lee; SJ Kim; SW Park; S Yeau; E- 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 524 KB