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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2015
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704723/
https://www.ncbi.nlm.nih.gov/pubmed/26530418
http://dx.doi.org/10.1534/g3.115.020321

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