Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2-Reference-Cited by-同舟云学术

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

Published:1996-06 Issue:2 Volume:13 Page:189-195
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Johnson D.W.,Berg J.N.,Baldwin M.A.,Gallione C.J.,Marondel I.,Yoon S.-J.,Stenzel T.T.,Speer M.,Pericak-Vance M.A.,Diamond A.,Guttmacher A.E.,Jackson C.E.,Attisano L.,Kucherlapati R.,Porteous M.E.M.,Marchuk D.A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0696-189.pdf

Reference35 articles.

1. Guttmacher, A.E., McKinnon, W.C. & Upton, M.D. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am. J. Med. Genet. 52, 252–253 (1994).

2. Guttmacher, A.E., Marchuk, D.A. & White, R.I. Current concepts: Hereditary hemorrhagic telangiectasia. New Engl. J. Med. 333, 918–924 (1995).

3. McDonald, M.T. et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet. 6, 197–204 (1994).

4. Shovlin, C.L. et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet. 6, 205–209 (1994).

5. McAllister, K.A. et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet. 8, 345–351 (1994).

Cited by 978 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia;Thrombosis Research;2024-09

2. Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition;Biomedicines;2024-08-07

3. Epigenetics enters the stage in vascular malformations;Journal of Clinical Investigation;2024-08-01

4. Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT);International Journal of Molecular Sciences;2024-07-12

5. Cracking the code of the cardiovascular enigma: hPSC-derived endothelial cells unveil the secrets of endothelial dysfunction;Journal of Molecular and Cellular Cardiology;2024-07