Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Sci Rep |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Nature Publishing Group UK
2021
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| Pynciau: | |
| Mynediad Ar-lein: | 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 |
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