Vascular presentation of cystathionine beta-synthase deficiency in adulthood
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9146-y
Reference15 articles.
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3. Gaustadnes M, Rudiger N, Rasmussen K, Ingerslev J (2000) Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T–>C mutation. Arterioscler Thromb Vasc Biol 20:1392–1395
4. Gerritsen T, Vaughn JG, Waisman HA (1962) The identification of homocystine in the urine. Biochem Biophys Res Commun 9:493–496
5. Janošík M, Oliveriusová J, Janošíková B et al (2001) Impaired heme binding and aggregation of mutant cystathionine β-synthase subunits in homocystinuria. Am J Hum Genet 68:1506–1513
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