The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth dise...
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease
About this item
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Author / Creator
Meggouh, F , Benomar, A , Rouger, H , Tardieu, S , Birouk, N , Tassin, J , Barhoumi, C , Yahyaoui, M , Chkili, T , Brice, A and LeGuern, E
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, cons...
Alternative Titles
Full title
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051253
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051253
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.35.3.251
