Regular ArticleA Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida
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Vitamin B12 deficiency
2022, Vitamins and HormonesThe N-terminus of MTRR plays a role in MTR reactivation cycle beyond electron transfer
2020, Bioorganic ChemistryCitation Excerpt :Mutations in MTRR gene can cause homocystinuria-megaloblastic anemia, cbl E type [5–9]. Furthermore, many clinical evidences indicated that maternal deficiency in this gene was associated with high risk of birth defects, such as Down syndromes, neural tube defects, congenital heart defects and etc. [10–16]. In genetic clinics, a female patient harboring an AGG deletion in MTRR exon 1 was enrolled.
Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice
2020, Molecular Genetics and Metabolism Reports
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Current address: Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway.
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