Literature DB >> 10190538

A new mutation in the elastin gene causing supravalvular aortic stenosis.

T Boeckel1, A Dierks, A Vergopoulos, S Bähring, H Knoblauch, B Müller-Myhsok, H Baron, A Aydin, G Bein, F C Luft, H Schuster.   

Abstract

A large supravalvular aortic stenosis kindred, with a point mutation in exon 18 and a stop codon in exon 22 of the elastin gene, is described. Clinically, the disease severity appeared to increase in successive generations in this family.

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Year:  1999        PMID： 10190538     DOI： 10.1016/s0002-9149(99)00032-6

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN： 0002-9149            Impact factor:   2.778


  3 in total

1.  Surgical repair of supravalvular aortic stenosis with use of Brom's technique: short-term results in 9 children.

Authors:  Brenda Fabiola Cruz-Castañeda; Fernando Carrillo-Llamas; Saúl Ramos-Higuera; Jaime Gilberto López-Taylor; Eliseo Portilla-de Buen
Journal:  Tex Heart Inst J       Date:  2009

2.  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

3.  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 in total

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