Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
X-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encod...
Main Authors: | Fairweather, N, Bell, C, Cochrane, S, Chelly, J, Wang, S, Mostacciuolo, M, Monaco, A, Haites, N |
---|---|
Format: | Journal article |
Language: | English |
Published: |
1994
|
Similar Items
-
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
by: Cochrane, S, et al.
Published: (1994) -
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
by: Pericak-Vance, M, et al.
Published: (1995) -
Connexin32 and X-linked Charcot–Marie–Tooth Disease
by: Linda Jo Bone, et al.
Published: (1997-01-01) -
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease
by: Hung-Li Wang, et al.
Published: (2004-03-01) -
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
by: Lee, M, et al.
Published: (2002)