Detection of 53FBN1mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy-Reference-Cited by-同舟云学术

Detection of 53FBN1mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

Published:2009-02 Issue:2 Volume:149A Page:161-170
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Turner C.L.S.,Emery H.,Collins A.L.,Howarth R.J.,Yearwood C.M.,Cross E.,Duncan P.J.,Bunyan D.J.,Harvey J.F.,Foulds N.C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies;Arbustini;Hum Mutat,2005

2. UMD (Universal Mutation Database): 2005 update;Beroud;Hum Mutat,2005

3. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy;Biggin;Hum Mutat,2004

4. Severe Marfan syndrome due to FBN1 exon deletions;Blyth;Am J Med Genet Part A,2008

5. Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome;Booms;Clin Genet,1999

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