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Kiran Musunuru, M.D., Ph nizagara safe .D., M.P.H., James P. Pirruccello, B.S., Ron Perform, M.S., Gina M. Peloso, M.S., Candace Guiducci, B.S., Carrie Sougnez, B.S., Kiran V. Garimella, M.S., Sheila Fisher, M.L.A., Justin Abreu, M.S., Andrew J. Barry, B.S., Tim Fennell, B.S., Eric Banking institutions, Ph.D., Lauren Ambrogio, B.S., Kristian Cibulskis, B.S., Andrew Kernytsky, Ph.D., Elena Gonzalez, B.S., Nicholas Rudzicz, M.S., James C. Engert, Ph.D., Mark A. DePristo, Ph.D., Mark J. Daly, Ph.D., Jonathan C. Cohen, Ph.D., Helen H. Hobbs, M.D., David Altshuler, M.D., Ph.D., Gustav Schonfeld, M.D., Stacey B. Gabriel, Ph.D., Pin Yue, Ph.D., and Sekar Kathiresan, M.D.: Brief Report: Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia Familial hypobetalipoproteinemia is an inherited disorder of lipid metabolism defined by suprisingly low levels of plasma apolipoprotein B and LDL cholesterol.
Zygosity Determination Lymphocyte-derived genomic DNA was examined by using nine independent polymorphic markers . In the discordant twin set, these markers were also examined in genomic DNA from buccal cells , and 10 additional polymorphic markers were examined in lymphocyte DNA; these extra 10 markers provide a stronger test of monozygosity. Analysis of SCN1A Mutations in SCN1A in genomic DNA from lymphocytes were sought in twin probands, seeing that described previously.7 In the discordant twin pair, DNA was also extracted from cheek cells, hair-follicle cells, fibroblasts produced from skin-biopsy samples, and cell lines produced from olfactory neuroepithelium. Top olfactory mucosa was extracted from a nasal-biopsy specimen attained by an otolaryngologist after the administration of regional anesthesia.