Article
Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.
QJM : monthly journal of the Association of Physicians - 1 Aug 1997
van der Put N M, van der Molen E F, Kluijtmans L A, Heil S G, Trijbels J M, Eskes T K, Van Oppenraaij-Emmerzaal D, Banerjee R, Blom H J
Abstract excerpt
Elevated homocysteine (Hcy) levels are observed in two apparently unrelated diseases: neural-tube defects (NTD) and premature vascular disease. Defective human methionine synthase (MS) could result in elevated Hcy levels. We sequenced the coding region of MS in 8 hyperhomocysteinaemic patients (4 NTD patients and 4 patients with pregnancies complicated by spiral arterial disease, SAD). We identified only one...
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