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Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation

机译：与复合杂合子相关的常染色体隐性von Willebrand疾病，用于新的非礼突变（2908德尔C）和畸变突变C2362F：C2362F突变非渗透的确定证据

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G. Castaman; K. Bertoncello; M. Bernardi; J.C.J. Eikenboom; U. Budde; F. Rodeghiero;
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年度 2007
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1. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. [J] . Castaman G, Novella E, Castiglia E, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2002,第2期

机译：新型隐性von Willebrand病家族，由于von Willebrand因子基因的剪接位点突变和错义突变而具有复合杂合性。
2. Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. [J] . Castaman G, Giacomelli S, Rodeghiero F Acta Haematologica . 2009,第2a3期

机译：由于von Willebrand因子基因的纯合或复合杂合突变，导致常染色体隐性von Willebrand疾病1或2型。在12个家庭中拥有有关分子异质性和实验室功能的单一中心经验。
3. C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor [J] . CasonatoA., PontaraE., BattistonM., Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis . 2013,第6期

机译：C2362F突变产生抗ADAMTS13的von Willebrand因子
4. Selection and mutation effects on equilibrium and stability of X-linked recessive diseases [C] . Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, IEEE Conference on Decision and Control . 2015

机译：选择和突变对X连锁隐性疾病平衡和稳定性的影响
5. Conditional linkage methods--Searching for modifier genes in a large Amish pedigree with known von Willebrand Disease major gene mutation. [D] . Abbott, Diana Lee. 2009

机译：条件连锁法-在一个大型阿米什（Amish）谱系中搜索具有已知von Willebrand疾病主要基因突变的修饰基因。
6. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. [O] . Z P Zhang, M Lindstedt, G Falk, 1992

机译：von Willebrand疾病III型和I型患者的von Willebrand因子基因的无意义突变。
7. Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa [O] . McGrath John A., Christiano Angela M., Pulkkinen Leena, 1996

机译：非致死性结节性表皮松解大疱中LAMB3基因无义和错义突变的复合杂合性。

Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation

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