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Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast

✍ Scribed by Marsha E Lucas; Qi Ma; David Cunningham; Jo Peters; Bruce Cattanach; Martin Bard; Bradley K Elmore; Gail E Herman


Book ID
117735556
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
227 KB
Volume
80
Category
Article
ISSN
1096-7192

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Homocystinuria due to cystathionine Ξ²-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al