Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

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Bibliographische Detailangaben
Veröffentlicht in:	Blood 2014-06, Vol.123 (25), p.4002-4004
Hauptverfasser:	Janczar, Szymon, Fogtman, Anna, Koblowska, Marta, Baranska, Dobromila, Pastorczak, Agata, Wegner, Olga, Kostrzewska, Magdalena, Laguna, Pawel, Borowiec, Maciej, Mlynarski, Wojciech
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Chromosome Deletion Chromosomes, Human, Pair 8 - genetics Deubiquitinating Enzymes Factor VIII - genetics Gene Deletion Hemophilia A - complications Hemophilia A - genetics Hemophilia A - pathology Humans Magnetic Resonance Angiography Male Membrane Proteins - genetics Moyamoya Disease - complications Moyamoya Disease - diagnosis Moyamoya Disease - genetics Sequence Analysis, DNA - methods Severity of Illness Index
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