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Journal article

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

Abstract:

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 encodes a gap junction protein which is expressed in large quantities within the liver and throughout a range of other mammalian tissues. We have sequenced the coding region of exon 2 of this gene from ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/3.1.29

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Journal:
Human molecular genetics More from this journal
Volume:
3
Issue:
1
Pages:
29-34
Publication date:
1994-01-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
pubs:44334
UUID:
uuid:6d76fb07-bb17-4b12-aacf-7083ecbe0169
Local pid:
pubs:44334
Source identifiers:
44334
Deposit date:
2012-12-19

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