Literature DB >> 11139266

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.

J Dedic1, A S Weiss, J Katahira, B Yu, R J Trent, Z Urbán.   

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Year:  2001        PMID： 11139266     DOI： 10.1002/1098-1004(2001)17:1<81::AID-HUMU30>3.0.CO;2-X

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Elastin mutation screening in a group of patients affected by vascular abnormalities.

Authors:  L Rodriguez-Revenga; C Badenas; A Carrió; M Milà
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

2.  Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

Authors:  Zsolt Urbán; Sheila Riazi; Thomas L Seidl; Jodi Katahira; Leslie B Smoot; David Chitayat; Charles D Boyd; Aleksander Hinek
Journal:  Am J Hum Genet       Date:  2002-05-06       Impact factor: 11.025

3.  Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Authors:  Lucia Micale; Maria Giuseppina Turturo; Carmela Fusco; Bartolomeo Augello; Luis A Pérez Jurado; Claudia Izzi; Maria Cristina Digilio; Donatella Milani; Elisabetta Lapi; Leopoldo Zelante; Giuseppe Merla
Journal:  Eur J Hum Genet       Date:  2009-10-21       Impact factor: 4.246
  3 in total

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