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Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

✍ Scribed by Núria López-Bigas; Maria L. Arbonés; Xavier Estivill; Lionel Simonneau

Book ID
118602693
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
486 KB
Volume
119
Category
Article
ISSN
0925-4773

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Identification of seven novel SNPS (five
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
✍ Núria López-Bigas; Raquel Rabionet; Elisabeth Martínez; Isabel Banchs; Víctor Vo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 1 views

Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis. We have analyzed this gene in samples from patients with peripheral neuropathies, deafness and controls and have found several single nucleotide polymorphisms (SNPs). In the noncoding exon 1 of GJB3 two