41 resultados para autosomal dominant inheritance

em Chinese Academy of Sciences Institutional Repositories Grid Portal


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Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia

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Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping

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In the present talk, the simulation of vortex dominant and turbulent flows are primarily addressed. To cope with complicated circumstances in environmental flows we illustrate the strategy of combining simplified physical model and suitable algorithm by a few examples.