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LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond

In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mai...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Palaima, Paulius, Berciano, José, Peeters, Kristien, Jordanova, Albena
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7874611/
https://ncbi.nlm.nih.gov/pubmed/33568173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01654-8
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