Mount Sinai School of Medicine, in collaboration with international researchers, recently announced one of the first studies using the completed sequence of a human chromosome to localize, identify, and explain the function of a disease-causing gene. According to John A. Martignetti, of the departments of human genetics and pediatrics, Mount Sinai Medical School, and one of the project's researchers, working with a 112-plus member Italian family with the inherited bleeding disorder known as May-Hegglin anomaly (MHA) enabled localization of the disease-causing gene's location (J.A. Martignetti, et al., "The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1," American Journal of Human Genetics, 66:1449-54, March 2000). The gene is on chromosome 22, the first in the human genome to be sequenced. Martignetti, Karen Heath, a postdoctoral fellow, and three groups of Italian colleagues then focused on two other similar blood disorders, Fechtner syndrome (FTNS), and Sebastian syndrome (SBS), ...
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Mount Sinai School of Medicine, in collaboration with international researchers, recently announced one of the first studies using the completed sequence of a human chromosome to localize, identify, and explain the function of a disease-causing gene. According to John A. Martignetti, of the departments of human genetics and pediatrics, Mount Sinai Medical School, and one of the project's researchers, working with a 112-plus member Italian family with the inherited bleeding disorder known as May-
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