𝔖 Bobbio Scriptorium
✦   LIBER   ✦

First evidence for a molecular link between Usher 1 and Usher 2 syndromes

✍ Scribed by RA Stein


Book ID
110888316
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
110 KB
Volume
69
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Usher syndrome type 2 caused by activati
✍ Christel VachΓ©; Thomas Besnard; Pauline le Berre; Gema GarcΓ­a-GarcΓ­a; David Baux πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 239 KB

USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. As the patients carried a common USH2A haplotype, they likely shared a mutation not fo