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Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts
Sarah Shefer, Gerald Salen, Akira Honda, Ashok Batta, Susan Hauser, G.Stephen Tint, Megumi Honda, Thomas Chen, Michael F. Holick, Lien B. NguyenVolume:
46
Year:
1997
Language:
english
DOI:
10.1016/s0026-0495(97)90133-5
File:
PDF, 779 KB
english, 1997