𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in theALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

✍ Scribed by Kjeldsen, A.D. ;Brusgaard, K. ;Poulsen, L. ;Kruse, T. ;Rasmussen, K. ;Green, A. ;Vase, P.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
113 KB
Volume
98
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel missense and frameshift mutations
✍ Daniel J. Klaus; Carol J. Gallione; Kara Anthony; Eric Y. Yeh; Jing Yu; Andreas πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 1 views

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage. One of the causative genes is the activin receptor-like kinase-1 (ALK-1) gene located on chromosome 12q13. ALK-1 is an endothelial cell type I rec

Mutation and expression analysis of the
✍ Carol J. Gallione; Daniel J. Klaus; Eric Y. Yeh; Timothy T. Stenzel; Yan Xue; Ka πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 214 KB πŸ‘ 1 views

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-b binding protein which maps to chromosome 9q3, is the

Molecular genetics of the long QT syndro
✍ Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 213 KB πŸ‘ 2 views

At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota

Identification of mutations in the CACNL
✍ SillΓ©n, Anna; SΓΈrensen, Troels; Kantola, Ilkka; Friis, Mogens Laue; Gustavson, K πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 136 KB πŸ‘ 1 views

Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel ␣ 1-subunit (CACNL1A3). Subsequen