Significant advances in identification of etiologies of inherited thrombosis have been recently reported. A point mutation in coagulation factor V (factor V Leiden) results in resistance to activated protein C and probably repesents the most common genetic risk factor for venous thrombosis. A metabo
✦ LIBER ✦
An update on inherited ataxias
✍ Scribed by Tanja Schmitz-Hübsch; Thomas Klockgether
- Book ID
- 107545611
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 305 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1528-4042
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Inherited thrombotic disorders: An updat
✍
Florell, Scott R.; Rodgers, George M.
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 97 KB
Inherited forms of renal hypomagnesemia:
✍
Nine V. A. M. Knoers
📂
Article
📅
2009
🏛
Springer
🌐
English
⚖ 247 KB
The kidney plays an important role in ion homeostasis in the human body. Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familia
Inherited human IRAK-4 deficiency: an up
✍
Capucine Picard; Horst von Bernuth; Cheng-Lung Ku; Kun Yang; Anne Puel; Jean-Lau
📂
Article
📅
2007
🏛
Springer-Verlag
🌐
English
⚖ 258 KB
Autosomal Recessive Inheritance: An Upda
✍
Kara A. Mensink; Jennifer L. Hand
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 522 KB
Update on selected inherited venous thro
✍
Ryan S. Robetorye; George M. Rodgers
📂
Article
📅
2001
🏛
John Wiley and Sons
🌐
English
⚖ 152 KB
Ataxia without telangiectasia revisited:
✍
Christine Klein; Grant S. Stewart; Niall P. Quinn; A. Malcolm. R. Taylor
📂
Article
📅
2001
🏛
John Wiley and Sons
🌐
English
⚖ 15 KB