𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in theEXT1gene

✍ Scribed by Sana Sfar; Abderrazak Abid; Wijden Mahfoudh; Houyem Ouragini; Farah Ouechtati; Sonia Abdelhak; Lotfi Chouchane

Publisher
Springer
Year
2008
Tongue
English
Weight
301 KB
Volume
36
Category
Article
ISSN
0301-4851

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel frameshift mut
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss
✍ Abdelaziz Tlili; Ilhem Charfedine; Imed Lahmar; Zaineb Benzina; Ben Amor Mohamed 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 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

Genetic analysis of RET, GFRα1 and GDNF
Genetic analysis of RET, GFRα1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A
✍ Laura Gil; Marta Azañedo; Marina Pollán; Eva Cristobal; Begoña Arribas; Luis Gar 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 French ⚖ 112 KB 👁 1 views

## Abstract Multiple endocrine neoplasia type 2A (MEN 2A) is associated with specific germline missense mutations in the __RET__ proto‐oncogene. This locus encodes a receptor tyrosine kinase whose activation requires the formation of a multimeric receptor complex including GDNF as a ligand and GFRα