Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels-Reference-Cited by-同舟云学术

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Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels

Published:2015-07 Issue: Volume:765 Page:7-18
ISSN:1383-5742
Container-title:Mutation Research/Reviews in Mutation Research
language:en
Short-container-title:Mutation Research/Reviews in Mutation Research

Author:

Zeyer Karina A.,Reinhardt Dieter P.^ORCID

Funder

Canadian Institutes of Health Research

Canada Research Chair program

Quebec Network of Oral and Bone Health Research

German Studienstiftung des deutschen Volkes

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics

Reference99 articles.

1. Marfan syndrome and other microfibrillar disorders;Pyeritz,2002

2. Location on chromosome 15 of the gene defect causing Marfan syndrome;Kainulainen;N. Engl. J. Med.,1990

3. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

4. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database;Collod-Beroud;Hum. Mutat.,2003

5. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils;Sakai;J. Cell Biol.,1986

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