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Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy J Robitaille, MLE MacDonald, A Kaykas, LC Sheldahl, J Zeisler, MP Dubé, ... Nature genetics 32 (2), 326-330, 2002 | 545 | 2002 |
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Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor … V Bocher, ER James, SM Clee, LH Zhang, BR Leavitt, B Tan, ... Journal of biological chemistry 276 (36), 33969-33979, 2001 | 228 | 2001 |
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans V Acuña-Alonzo, T Flores-Dorantes, JK Kruit, T Villarreal-Molina, ... Human Molecular Genetics 19 (14), 2877-2885, 2010 | 193 | 2010 |
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Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. MWL Fardella CE, Zhang LH, Mahachoklertwattana P, Lin D J Clin Endocrinol Metab. 77 (2), 489-493, 1993 | 96 | 1993 |
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