✦ LIBER ✦

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

✍ Scribed by K Brusgaard; AD Kjeldsen; L Poulsen; H Moss; P Vase; K Rasmussen; TA Kruse; M Hørder

Book ID: 110887954
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 107 KB
Volume: 66
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2004.00341.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the activin receptor–like k

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

✍ Johnson, D.W.; Berg, J.N.; Baldwin, M.A.; Gallione, C.J.; Marondel, I.; Yoon, S. 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 896 KB

Novel missense and frameshift mutations

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia

✍ Daniel J. Klaus; Carol J. Gallione; Kara Anthony; Eric Y. Yeh; Jing Yu; Andreas 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 3 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

The Activin Receptor-Like Kinase 1 Gene:

The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

✍ Jonathan N. Berg; Carol J. Gallione; Timothy T. Stenzel; David W. Johnson; Willi 📂 Article 📅 1997 🏛 American Society of Human Genetics 🌐 English ⚖ 357 KB

Three novel mutations in the activin rec

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients

✍ A. M. Assis; F. F. Costa; V. R. Arruda; J. M. Annichino-Bizzacchi; C. S. Bertuzz 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 237 KB

Mutations of activin-receptor-like kinas

Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease

✍ Albert Selva-O’Callaghan; Eva Balada; Silvia Serrano-Acedo; Carmen Pilar Simeon 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 76 KB

Detection of a significant association b

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

✍ K Brakensiek; H Frye-Boukhriss; M Mälzer; M Abramowicz; MJ Bahr; N Von Beckerath 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB