𝔖 Bobbio Scriptorium

✦ LIBER ✦

Von Willebrand disease caused by compound heterozygosity for p.r854q and p.r760c: diagnostic and therapeutic implications

✍ Scribed by J. KOESSLER; E. WITZ; A. PLASS; C. SOMMER; U. STEIGERWALD; U. WALTER; S. HETERICH

Book ID: 108775610
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 177 KB
Volume: 17
Category: Article
ISSN: 1351-8216
DOI: 10.1111/j.1365-2516.2010.02384.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Compound heterozygosity or heterozygosit

Compound heterozygosity or heterozygosity with two mutations in cis on the same allele? : A rebuttal to the letter to the Editors: Koessler et al. Von Willebrand disease caused by compound heterozygosity for p.R854Q and p.R760C: diagnostic and therapeutic implications. Haemophilia 2011; 17: e240–2.

✍ A. VEYRADIER; E. FRESSINAUD; J. GOUDEMAND 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB

A patient with von Willebrand's disease

A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele

✍ Kathelijne Peerlinck; Jeroen C. J. Eikenboom; Hans K. Ploos; Van Amstel; Wanida 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 961 KB