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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Neurol
Egile Nagusiak: Massadeh, Salam, Umair, Muhammad, Alaamery, Manal, Alfadhel, Majid
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2019
Gaiak:
Neurology
Sarrera elektronikoa: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
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