Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot -- Marie -- Tooth neuropathy |
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| Authors: | Ionasescu, Victor Searby, Charles Ionasescu, Rebecca |
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| Affiliation: | Division of Medical Genetics, Department of Pediatncs, University of Iowa Hospitals and Clinics lowa City, IA 52242, USA |
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| Abstract: | ![]()
Ten families with X-linked dominant CMT neuropathy (CMTX1) werescreened for point mutations of the connexin32 (Cx32, GJB1)gene. Two families showed missense mutations, respectively anA |
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