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...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Lerat, Justine, Magdelaine, Corinne, Derouault, Paco, Beauvais‐Dzugan, Hélène, Bieth, Eric, Acket, Blandine, Arne‐Bes, Marie‐Christine, Sturtz, Franck, Lia, Anne‐Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732271/
https://ncbi.nlm.nih.gov/pubmed/31338985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.875
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