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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:G3 (Bethesda)
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Genetics Society of America 2015
Schlagworte:
Investigations
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge