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New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
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 of three...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732271/ https://www.ncbi.nlm.nih.gov/pubmed/31338985 http://dx.doi.org/10.1002/mgg3.875 |