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

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Bibliographic Details
Published inJournal of medical genetics Vol. 41; no. 8; p. e104
Main Authors Müller, J S, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S K, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.08.2004
BMJ Publishing Group LTD
BMJ Group
Subjects
Asparagine - genetics
Chromosomes
CMS
congenital myasthenic syndromes
Electronic Letter
Enzymes
Europe
Evolution, Molecular
founder
Founder Effect
Haplotypes
Humans
India
Lysine - genetics
Muscle Proteins - genetics
Mutation
Mutation, Missense - genetics
Myasthenic Syndromes, Congenital - genetics
Patients
RAPSN N88K
rapsyn
single nucleotide polymorphisms
SNPs
Europe
India
Indian subcontinent
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Bibliography:Correspondence to:
 Dr Hanns Lochmüller
 Genzentrum München, Feodor-Lynen-Str. 25, 81377 München, Germany; hanns@lmb.uni-muenchen.de
PMID:15286164
local:041e104
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ark:/67375/NVC-KJ735N1R-6
href:jmedgenet-41-e104.pdf
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ObjectType-Article-2
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ObjectType-Correspondence-1
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.021139