Article
Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?
Clinical genetics - 1 Jan 1997
Ramsbottom D, Scott J M, Molloy A, Weir D G, Kirke P N, Mills J L, Gallagher P M, Whitehead A S
Abstract excerpt
Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of NTDs is also known to have both genetic and nutritional components. We therefore examined the frequency of relatively common mutations in the enzyme cystathionine...
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