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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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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8292323/ https://ncbi.nlm.nih.gov/pubmed/34285201 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00159-5 |
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