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High carrier frequency of the 35delG deafness mutation in European populations

✍ Scribed by Gasparini, Paolo; Rabionet, Raquel; Barbujani, Guido; Melchionda, Salvatore; Petersen, Michael; Brøndum-Nielsen, Karen; Metspalu, Andres; Oitmaa, Eneli; Pisano, Marina; Fortina, Paolo


Book ID
110024904
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
273 KB
Volume
8
Category
Article
ISSN
1018-4813

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Prenatal diagnosis of prelingual deafnes
✍ Thalia Antoniadi; Andreas Pampanos; Michael B. Petersen 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. One specific mutation, 35delG, has accounted for the majority of th