𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

✍ Scribed by Ouechtati, Farah; Merdassi, Ahlem; Bouyacoub, Yosra; Largueche, Leila; Derouiche, Kaouther; Ouragini, Houyem; Nouira, Sonia; Tiab, Leila; Baklouti, Karim; Rebai, Ahmed


Book ID
111688994
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
620 KB
Volume
56
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of a novel frameshift mut
✍ Abdelaziz Tlili; Ilhem Charfedine; Imed Lahmar; Zaineb Benzina; Ben Amor Mohamed πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 65 KB πŸ‘ 1 views

## Communicated by Henrik Dahl Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting f