Yüklüyor......
The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype
OBJECTIVES: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT‐TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT‐TS1 has been previously associated with non‐syndromic HI i...
Kaydedildi:
| Yayımlandı: | Brain Behav |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2017
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5745241/ https://ncbi.nlm.nih.gov/pubmed/29299381 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.859 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|