A carregar...
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Background: Severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a heterogeneous metabolic disorder inherited in an autosomal recessive manner. Pathogenic mutations in MTHFR gene have been associated with severe MTHFR deficiency. The clinical presentation of MTHFR deficiency is high...
Na minha lista:
| Publicado no: | Front Neurol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6491806/ https://ncbi.nlm.nih.gov/pubmed/31068897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00411 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|