Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome-Reference-Cited by-同舟云学术

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Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

Published:2001 Issue:3 Volume:18 Page:251-251
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Comeglio Paolo,Evans Alison L.,Brice Glen W.,Child Anne H.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 14 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. Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1;European Journal of Medical Genetics;2022-11

2. FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection;Human Molecular Genetics;2017-09-18

3. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD;Scientific Reports;2015-08-14

4. Diagnosis and genetics of Marfan syndrome;Expert Opinion on Orphan Drugs;2014-08-18

5. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability;Clinical Genetics;2013-03-18

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