Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sandra M. Burridge"'
Autor:
Victoria Forster, Bruce A.J. Ponder, Elizabeth Boyd, R G Sutcliffe, A J Russell, Keith Vass, Norma Morrison, Martin W. McBride, Sandra M. Burridge
Publikováno v:
Molecular and Cellular Probes. 9:121-128
Several bands of hydridization are detected when southern blots of human genomic DNA are proved with cDNA of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) type I. Two experimental approaches were adopted to estimate the size of the 3 beta-HSD gene
Autor:
Nicola J. Craig, R G Sutcliffe, Alison J McVie, Sandra M. Burridge, Richard H. Wilson, Jennifer Varley, Bill Brintnell, A Michael Wallace, Martin W. McBride
Publikováno v:
Genomics. 61(3)
Seven members of the human 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene family (HGMW-approved symbols HSD3BP1-HSD3BP5) have been cloned and physically mapped. HSD3B1 and 2 express 3beta-HSD enzymes; HSD3Bpsi1-5 are unprocessed pseudogenes that
Autor:
Sandra M. Burridge, Martin W. McBride, R G Sutcliffe, A J Russell, G Corcao, C S Hawes, A M McNicol, J I Mason, S McCartin
Publikováno v:
Endocrine research. 21(1-2)
Polymorphic genetic variation shows that the genes for human 3 beta-hydroxysteroid dehydrogenases (3 beta-HSD) types I and II are closely linked. The type II mutations A82T, S100N and L173R are associated with male pseudohermaphroditism and A82T is a
Autor:
Sandra M. Burridge, Chin-Jia Lin, Glenn K. Fu, Anthony A. Portale, Malgorzata Labuda, Jonathan T. Wang, Walter L. Miller
Publikováno v:
The American Journal of Human Genetics. (6):1694-1702
Vitamin D-dependent rickets type I (VDDR-I), also known as pseudo-vitamin D-deficiency rickets, appears to result from deficiency of renal vitamin D 1alpha-hydroxylase activity. Prior work has shown that the affected gene lies on 12q13.3. We recently