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作者:Stephen R Braddock , Gary F Krause
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2004, Vol.82 (2), pp.144-153Elsevier
摘要:Abstract(#br)An arginine to glutamine substitution in the triple helix of proα2(I)collagen (R618Q) was first reported in a patient with a variant of Marfan syndrome and later identified in conjunction with a second mutation in a patient with osteogenesis imperfecta (OI). The...
作者:Stephen R Braddock , Jane Juusola ...
来源:[J].Journal of Medical Genetics, 2015, Vol.52 (9), pp.627-635Duke University Press
摘要:BackgroundThe identification of the molecular basis of mitochondrial disorders continues to be challenging and expensive. The increasing usage of next-generation sequencing is facilitating the discovery of the genetic aetiology of heterogeneous phenotypes associated with these co...

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