טוען...
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy
OBJECTIVE: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2). METHODS: KIF5A sequencing of the motor-domain coding exons w...
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| Main Authors: | , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Lippincott Williams & Wilkins
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4141994/ https://ncbi.nlm.nih.gov/pubmed/25008398 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000691 |
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