Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect-Reference-Cited by-同舟云学术

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Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect

Published:2000-07 Issue:1 Volume:107 Page:40-44
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gallione Carol J.,Scheessele Erin A.,Reinhardt Diana,Duits Ashley J.,Berg Jonathan N.,Westermann Cornelius J.J.,Marchuk Douglas A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390000326.pdf

Cited by 23 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. Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis;Pediatric Reports;2023-02-10

2. Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago;Molecular Genetics & Genomic Medicine;2022-05-27

3. Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean;American Journal of Medical Genetics Part A;2022-03-07

4. Founder Effects in Hereditary Hemorrhagic Telangiectasia;Journal of Clinical Medicine;2021-04-14

5. Clinical and community genetics services in the Dutch Caribbean;Journal of Community Genetics;2021-03-10

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