Journal
NATURE GENETICS
Volume 42, Issue 1, Pages 13-14Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng0110-13
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Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG200359, ZIAHG200328] Funding Source: NIH RePORTER
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Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.
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