Carregant...
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
Sorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and...
Guardat en:
| Publicat a: | NPJ Genom Med |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2021
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7782788/ https://ncbi.nlm.nih.gov/pubmed/33397963 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00165-6 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|