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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population

โœ Scribed by Vassos Neocleous; George Portides; Violetta Anastasiadou; Leonidas A. Phylactou


Book ID
116564260
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
171 KB
Volume
70
Category
Article
ISSN
0165-5876

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โœ Katrien Storm; Sandra Willocx; Kris Flothmann; Guy Van Camp ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 175 KB

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