✦ LIBER ✦

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

✍ Scribed by Jonathan N. Berg; Carol J. Gallione; Timothy T. Stenzel; David W. Johnson; William P. Allen; Charles E. Schwartz; Charles E. Jackson; Mary E.M. Porteous; Douglas A. Marchuk

Book ID: 117855046
Publisher: American Society of Human Genetics
Year: 1997
Tongue: English
Weight: 357 KB
Volume: 61
Category: Article
ISSN: 0002-9297
DOI: 10.1086/513903

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

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 in endoglin and in activin rec

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

✍ K Brusgaard; AD Kjeldsen; L Poulsen; H Moss; P Vase; K Rasmussen; TA Kruse; M Hø 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB

Novel frameshift and splice site mutatio

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV

✍ Verpoorten, Nathalie (author);Claeys, Kristl G. (author);Deprez, Liesbet (author 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 345 KB

Novel frameshift and splice site mutatio

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV

✍ Verpoorten, Nathalie (author);Claeys, Kristl G. (author);Deprez, Liesbet (author 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 345 KB