Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-010-0791-x.pdf
Reference21 articles.
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2. Bruzzone R, White TW, Paul DL (1996) Connections with connexins the molecular-basis of direct intercellular singnalling. Eur J Biochem 238:1–27
3. Corcos IA, Meess EU, Loch-Caruso R (1993) Human connexin 43 gene locus, GJA1, sublocalized to band 6q21 → q23.2. Cytogenet Cell Genet 64:31–32
4. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El Zir E, Aubois A, Joannard A, Petit C (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173–2177
5. Fishman GI, Moreno AP, Spray DC, Leinwand LA (1991) Functional analysis of human cardiac junction channel mutants. Proc Natl Acad Sci USA 88:3525–3529
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