Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes.
作者信息
Janczar Szymon, Fogtman Anna, Koblowska Marta, Baranska Dobromila, Pastorczak Agata, Wegner Olga, Kostrzewska Magdalena, Laguna Pawel, Borowiec Maciej, Mlynarski Wojciech
机构信息
Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
Laboratory for Microarray Analysis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
出版信息
Blood. 2014 Jun 19;123(25):4002-4. doi: 10.1182/blood-2014-02-553685.
PMID:24948625
Abstract
摘要
Zotero 插件