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New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusive...
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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Russo |
| Gepubliceerd in: |
ABV-press
2016-07-01
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| Reeks: | Nervno-Myšečnye Bolezni |
| Onderwerpen: | |
| Online toegang: | https://nmb.abvpress.ru/jour/article/view/155 |
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