𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

✍ Scribed by Kirsten M. Sanggaard; Klaus W. Kjaer; Hans Eiberg; Gudrun Nürnberg; Peter Nürnberg; Katrin Hoffman; Hanne Jensen; Charlotte Sørum; Nanna D. Rendtorff; Lisbeth Tranebjærg


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
472 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel mutation in the KCNQ4 gene in a la
✍ Zohreh Talebizadeh; Philip M. Kelley; James W. Askew; Kirk W. Beisel; Shelley D. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 407 KB 👁 1 views

Analysis of genotyping of a five-generation American family with nonsyndromic dominant progressive hearing loss indicated linkage to the DFNA2 locus on chromosome 1p34. This kindred consists of 170 individuals, of which 51 are affected. Pure tone audiograms, medical records, and blood samples were o