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Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population: Impact on the newborn hearing screening

✍ Scribed by Luis Pablo Gravina; María Eugenia Foncuberta; Rosaura Caron Estrada; Cristina Barreiro; Lilien Chertkoff


Book ID
116564501
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
120 KB
Volume
71
Category
Article
ISSN
0165-5876

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Mutations in the gene GJB2, encoding the gap-junction protein connexin-26, have been shown to be a major cause of nonsyndromic recessive deafness (NSRD). A single mutation in the GJB2 gene accounts for the majority of NSRD in many different populations. This mutation represents a deletion of a guani