Article
Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.
Molecular genetics and metabolism - 1 Jan 2000
Lucas Marsha E, Ma Qi, Cunningham David, Peters Jo, Cattanach Bruce, Bard Martin, Elmore Bradley K, Herman Gail E
Abstract excerpt
Nsdhl is a 3beta-hydroxysterol dehydrogenase that is involved in the removal of C-4 methyl groups in the cholesterol biosynthetic pathway. Mutations in this gene are associated with the X-linked male lethal mouse mutations bare patches (Bpa) and striated (Str) and human CHILD syndrome. We have now detected the missense mutations V53D and A94T in conserved amino acids in two additional Bpa alleles. The latter...
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