Concepedia

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile, Don S. Lin, Leesa M. Linck, William E. Connor, Robert D. Steiner, Forbes D. Porter

The American Journal of Human Genetics · 1998 · 424 citations · 23 references

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23

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

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A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES

Jordi Folch, Marjorie B. Lees, G H S Stanley · Journal of Biological Chemistry · 1957 · 64.9K citations · Full text

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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

Chin Chiang, Ying Litingtung, Eric Lee et al. · Nature · 1996 · 3.1K citations

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Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development

Jeffery A. Porter, Keith E. Young, Philip A. Beachy · Science · 1996 · 1.4K citations

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Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

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