WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement

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Bibliographic Details
Published inNeuromuscular disorders : NMD Vol. 25; p. S277
Main Authors Karakaya, M, Kunde, V, Heller, R, Nürnberg, P, Cirak, S
Format Journal Article
LanguageEnglish
Published 01.10.2015
Subjects
Neurology
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ISSN:0960-8966
DOI:10.1016/j.nmd.2015.06.328