Literature DB >> 10093067

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.

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Year:  1998        PMID: 10093067     DOI: 10.1016/s0960-8966(98)00067-4

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


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  10 in total

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4.  Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

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7.  Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

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8.  Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry.

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9.  Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

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  10 in total

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