Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing

Moyamoya disease (MMD) is a rare disorder characterized by cerebrovascular occlusion and development of hemorrhage-prone collateral vessels. Approximately 10–12% of cases are familial, with a presumed low penetrance autosomal dominant pattern of inheritance. Diagnosis commonly occurs only after clin...

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Enregistré dans:
Détails bibliographiques
Publié dans:G3 (Bethesda)
Auteurs principaux: Shoemaker, Lorelei D., Clark, Michael J., Patwardhan, Anil, Chandratillake, Gemma, Garcia, Sarah, Chen, Rong, Morgan, Alexander A., Leng, Nan, Kirk, Scott, Chen, Richard, Cook, Douglas J., Snyder, Michael, Steinberg, Gary K.
Format: Artigo
Langue:Inglês
Publié: Genetics Society of America 2015
Sujets:
Investigations
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4704723/
https://ncbi.nlm.nih.gov/pubmed/26530418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.115.020321
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