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Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

✍ Scribed by Regie Lyn P. Santos; Yurii S. Aulchenko; Patrick L.M. Huygen; Kim P. van der Donk; Ilse J. de Wijs; Martijn H. Kemperman; Ronald J.C. Admiraal; Hannie Kremer; Lies H. Hoefsloot; Cor W.R.J. Cremers

Book ID
116563764
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
175 KB
Volume
69
Category
Article
ISSN
0165-5876

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Pattern of connexin 26 (GJB2) mutations
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
✍ Christoph Hamelmann; Geoffrey K. Amedofu; Katrin Albrecht; Birgit Muntau; Annett πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 30 KB

Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: