๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Two missense mutations in SLC26A4 gene: a molecular and functional study

โœ Scribed by I Ben Rebeh; N Yoshimi; H Hadj-Kacem; S Yanohco; B Hammami; M Mnif; M Araki; A Ghorbel; H Ayadi; S Masmoudi; H Miyazaki


Book ID
110888969
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
656 KB
Volume
78
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Novel mutations in the SLC26A4 gene
โœ Micol Busi; Alessandro Castiglione; Marina Taddei Masieri; Anna Ravani; Valeria ๐Ÿ“‚ Article ๐Ÿ“… 2012 ๐Ÿ› Elsevier Science ๐ŸŒ English โš– 812 KB
Novel mutations in the SLC26A4 gene
โœ Micol Busi; Alessandro Castiglione; Marina Taddei Masieri; Anna Ravani; Valeria ๐Ÿ“‚ Article ๐Ÿ“… 2012 ๐Ÿ› Elsevier Science ๐ŸŒ English โš– 812 KB

## Objectives: Mutations in the slc26a4 gene (7q22.3-7q31.1) are considered one of the most common causes of genetic hearing loss. there are two clinical forms related to these mutations: syndromic and non-syndromic deafness. the first one is named pendred syndrome (ps) when deafness is associated

Identification of novel mutations in the
โœ Alessandra Tessa; Giuseppe Fiermonte; Carlo Dionisi-Vici; Eleonora Paradies; Mat ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 306 KB

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande