New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
Abstract Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed...
Furkejuvvon:
| Váldodahkkit: | , , , , , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Wiley
2019-09-01
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| Ráidu: | Molecular Genetics & Genomic Medicine |
| Fáttát: | |
| Liŋkkat: | https://doi.org/10.1002/mgg3.875 |
| Fáddágilkorat: |
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