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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

✍ Scribed by B Drera; N Zoppi; S Barlati; M Colombi


Book ID
110888289
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
232 KB
Volume
70
Category
Article
ISSN
0009-9163

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✍ CasaΓ±a, Pilar; MartΓ­nez, Francisco; EspinΓ³s, Carmen; Haya, Saturnino; Lorenzo, J πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 431 KB πŸ‘ 1 views

von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF). A large number of defects that cause qualitative variants have been located in the A1 domain of the vWF, which