A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
Frosst, P. ; Blom, H.J. ; Milos, R. ; Goyette, P. ; Sheppard, C.A. ; Matthews, R.G. ; Boers, G.J.H. ; den Heijer, M. ; Kluijtmans, L.A.J. ; van den Heuve, L.P. ; Rozen, R.
[s.l.] : Nature Publishing Group
Published 1995
[s.l.] : Nature Publishing Group
Published 1995
| ISSN: |
1546-1718
|
|---|---|
| Source: |
Nature Archives 1869 - 2009
|
| Topics: |
Biology
Medicine
|
| Notes: |
[Auszug] Severe MTHFR deficiency, the most common inborn error of folate metabolism, results in hyperhomo-cysteinaemia, homocystinuria, and hypomethioninaemia. Patients with severe MTHFR deficiency (0–20% residual activity in cultured fibroblasts) present in infancy or adolescence with developmental ...
|
| Type of Medium: |
Electronic Resource
|
| URL: |