Loading...
Novel Diagnostic Paradigms for Friedreich Ataxia
Friedreich ataxia is the most common inherited ataxia, with a wide phenotypic spectrum. It is generally caused by GAA expansions on both alleles of FXN, but a small percentage of patients are compound heterozygotes for a pathogenic expansion and a point mutation. Two recent diagnostic innovations ar...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2012
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674546/ https://ncbi.nlm.nih.gov/pubmed/22752491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448440 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|