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A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

โœ Scribed by Maria Stella Alemanno; Elona Cama; Rosamaria Santarelli; Massimo Carella; Leopoldo Zelante; Luisa Toffolatti; Teresa Palladino; Salvatore Melchionda; Edoardo Arslan


Book ID
116565052
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
503 KB
Volume
73
Category
Article
ISSN
0165-5876

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Identification of mutations in the conne
โœ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 223 KB ๐Ÿ‘ 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc