Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype-Reference-Cited by-同舟云学术

Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Published:2001-12-12 Issue:1 Volume:19 Page:39-48
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gupta Prateek A.,Putnam Elizabeth A.,Carmical Sonya G.,Kaitila Ilkka,Steinmann Beat,Child Anne,Danesino Cesare,Metcalfe Kay,Berry Susan A.,Chen Emily,Delorme Catherine Vincent,Thong Meow-Keong,Adès Lesley C.,Milewicz Dianna M.

Funder

March of Dimes

American Heart Association Texas

National Marfan Foundation

Telethon (Italy)

British Scoliosis Research Foundation

Marfan Trust

Bluff-Field Charitable Foundation

Marfan Association United Kingdom

NIH NCRR funding of University of Texas-Houston Medical School Clinical Research Center

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly;Babcock;Hum Genet,1998

2. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am J Med Genet,2000

3. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end;Corson;Genomics,1993

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

5. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains;Dietz;Hum Mutat,1992

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