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New connexin32 muations associated with X-linked Charcot-Marie-Tooth disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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1995 (English)In: Neurology, ISSN 0028-3878, Vol. 45, no 10, 1863-6 p.Article in journal (Refereed) Published
Abstract [en]

Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the distribution of connexin32 mutations in X-linked Charcot-Marie-Tooth disease and shows that specific mutations recur in additional families.

Place, publisher, year, edition, pages
1995. Vol. 45, no 10, 1863-6 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-52121PubMedID: 7477983OAI: oai:DiVA.org:uu-52121DiVA: diva2:80030
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2009-09-18Bibliographically approved

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