A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

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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Bibliographic Details
Main Authors: Salam Massadeh, Muhammad Umair, Manal Alaamery, Majid Alfadhel
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Neurology
Subjects:
MTHFR
non-sense mutation
white matter disease
microcephaly
severe methylenetetrahydrofolate reductase deficiency
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00411/full

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https://www.frontiersin.org/article/10.3389/fneur.2019.00411/full

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