Exome sequencing identifies the cause of a mendelian disorder : Nature Genetics : Nature Publishing Group
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Exome sequencing identifies the cause of a mendelian disorder : Nature Genetics : Nature Publishing Group
Michael Bamshad, Jay Shendure and colleagues report the first application of exome resequencing to identify the cause of a mendelian disorder. They sequenced the exomes of four individuals with Miller syndrome in three independent families and identify mutations in DHODH, a key enzyme in the pyrimidine de novo biosynthesis pathway, as causal for the disorder.
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Tags: Genetic, Disease and Condition, Relationship, Nature, Genetics
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