Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.
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.
对 4 名米勒综合征患者的外显子进行大规模平行测序,结合过滤排除良性和无关变体,确定了 DHODH 的致病突变。这种方法将加速发现数百种其他罕见的孟德尔疾病的遗传基础。