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...

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Detalles Bibliográficos
Autores principales: Massadeh, Salam, Umair, Muhammad, Alaamery, Manal, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491806/
https://www.ncbi.nlm.nih.gov/pubmed/31068897
http://dx.doi.org/10.3389/fneur.2019.00411

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491806/
https://www.ncbi.nlm.nih.gov/pubmed/31068897
http://dx.doi.org/10.3389/fneur.2019.00411

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