Yüklüyor......
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype
Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the Leucine-rich repeat and sterile alpha motif-contai...
Kaydedildi:
| Yayımlandı: | Case Rep Neurol |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
S. Karger AG
2016
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4939679/ https://ncbi.nlm.nih.gov/pubmed/27462242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000446872 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|