Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy

INTRODUCTION: Congenital hypomyelinating neuropathy is a rare congenital neuropathy that presents in the neonatal period and has been linked previously to mutations in a number of genes associated with myelination. A recent study has linked 4 homozygous frameshift mutations in the CNTNAP1 gene with...

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Vydáno v:Muscle Nerve
Hlavní autoři: Mehta, Paulomi, Küspert, Melanie, Bale, Tejus, Brownstein, Catherine A, Towne, Meghan C., De Girolami, Umberto, Shi, Jiahai, Beggs, Alan H., Darras, Basil T., Wegner, Michael, Piao, Xianhua, Agrawal, Pankaj B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5366284/
https://ncbi.nlm.nih.gov/pubmed/27668699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25416
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