Piao Y C, Lavergne J M, Boyer-Neumann C, Schandelong A, Alessi M C, Meyer D
INSERM U. 143, Hôpital de Bicêtre.
Blood Coagul Fibrinolysis. 1993 Oct;4(5):787-9.
A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.
在另外三个患有遗传性IIB型血管性血友病的不相关家族中，在血管性血友病因子基因的第28外显子中检测到复发性杂合CGG→CAG（精氨酸578谷氨酰胺）突变。这一相同的突变在每个家族中表现出不同的表型表达。
