ロード中...
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic varian...
保存先:
| 出版年: | Eur J Hum Genet |
|---|---|
| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2015
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4297911/ https://ncbi.nlm.nih.gov/pubmed/24781754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.83 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|