A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype-Reference-Cited by-同舟云学术

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A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Published:1997-07-09 Issue:2 Volume:100 Page:195-200
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Booms Patrick,Withers Anne P.,Boxer Maureen,Kaufmann Ursula C.,Hagemeier Christian,Vetter Ulrich,Robinson P. N.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050489.pdf

Cited by 18 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. Pathology of the Elastic Matrix;Elastic Fiber Matrices;2016-05-19

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

3. A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features;Molecular Syndromology;2014

4. Ectopia lentis as the presenting and primary feature in Marfan syndrome;American Journal of Medical Genetics Part A;2011-09-19

5. Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer;Familial Cancer;2009-07-21

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