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Article

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

30 Jul 2004

Abstract excerpt

2] Based on the analysis of a small number of intragenic single nucleotide polymorphisms (SNPs) and/or extragenic, polymorphic repeat markers, we hypothesised that RAPSN (N88K) may derive from a common founder. 7 However, this hypothesis was disputed in a recent report in the Journal of Medical Genetics. 10 In this study, 12 independent RAPSN (N88K) alleles from white North American CMS patients were compared to...

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Identifiers

PMID: 15286164
DOI: 10.1136/jmg.2004.021139

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