✦ LIBER ✦

A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation

✍ Scribed by Ming-Ching Shen; Jen-Shiou Lin; David Shih-Yao Lin; Su-Chuen Hsu; Bodo Lin

Book ID: 116912886
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 319 KB
Volume: 112
Category: Article
ISSN: 0049-3848
DOI: 10.1016/j.thromres.2003.11.013

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A family having type 2B von Willebrand d

A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers

✍ Michio Ozeki; Shinji Kunishima; Kimiko Kasahara; Michinori Funato; Takahide Tera 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 693 KB

Identification of a new candidate mutati

Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease

✍ Casa�a, Pilar; Mart�nez, Francisco; Haya, Saturnino; Aznar, Jos� A. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 88 KB 👁 1 views

Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified

Corrigendum to “A family having type 2B

Corrigendum to “A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers” [Thrombosis Research 125 (2010) e17–e22]

✍ Michio Ozeki; Shinji Kunishima; Kimiko Kasahara; Michinori Funato; Takahide Tera 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 120 KB

A novel RAB7 mutation in a Chinese famil

A novel RAB7 mutation in a Chinese family with Charcot–Marie–Tooth type 2B disease

✍ Wang, Xing; Han, Chunmao; Liu, Wenqiang; Wang, Ping; Zhang, Xianqin 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 611 KB

Identification of a candidate missense m

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC

✍ Reinhard Schneppenheim; Kathy B. Thomas; Sonja Krey; Ulrich Budde; Ursula Jessat 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 833 KB

Identification and characterization of a

Identification and characterization of a novel mutation in von Willebrand factor causing type 2B von Willebrand's disease

✍ David A. Facey; Emmanuel J. Favaloro; Jerry Koutts; Michael C. Berndt; Mark S. H 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB