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Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms in the PRODH gene, as detected by plasma ami...

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Detalles Bibliográficos
Autores principales:	Hama, Rina, Kido, Jun, Sugawara, Keishin, Nakamura, Toshiro, Nakamura, Kimitoshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292323/ https://www.ncbi.nlm.nih.gov/pubmed/34285201 http://dx.doi.org/10.1038/s41439-021-00159-5

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