Nalaganje...
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a large cohort of Czech patients with unknown cause of HN. Exome sequencing data were analysed for SORD (58 patients). The p...
Shranjeno v:
| izdano v: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2021
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8055917/ https://ncbi.nlm.nih.gov/pubmed/33875678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-86857-0 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|