✦ LIBER ✦

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

✍ Scribed by Yan, Denise; Ouyang, Xiaomei; Patterson, D Michael; Du, Li Lin; Jacobson, Samuel G; Liu, Xue-Zhong

Book ID: 120373206
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 378 KB
Volume: 54
Category: Article
ISSN: 1435-232X
DOI: 10.1038/jhg.2009.107

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

Spectrum of Mutations in USH2A in Britis

Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

✍ Bart P Leroy; José A Aragon-Martin; Michael D Weston; David A.R Bessant; Catheri 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 159 KB

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

Identification of 11 novel mutations in

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

✍ H Nakanishi; M Ohtsubo; S Iwasaki; Y Hotta; K Mizuta; H Mineta; S Minoshima 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 716 KB

Identification of 51 Novel Exons of the

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

✍ Erwin van Wijk; Ronald J.E. Pennings; Heleen te Brinke; Annemarie Claassen; Helg 📂 Article 📅 2004 🏛 American Society of Human Genetics 🌐 English ⚖ 595 KB

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