Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-To...
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
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England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies. The dominantly inherited axonal CMT2 displays striking genetic heterogeneity, with 17 presently known disease genes. The large number of candidate genes, combined with lack of genotype-phenotype correlations, has made genetic diagnosis in CMT2 time-consuming and cos...
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Full title
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3953916
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3953916
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.190
