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1997 | 1 |
2000 | 1 |
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Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Hum Mol Genet. 1997 Jul;6(7):1021-8. doi: 10.1093/hmg/6.7.1021.
Hum Mol Genet. 1997.
PMID: 9215670
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M.
Metcalfe K, et al.
Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564.
Eur J Hum Genet. 2000.
PMID: 11175284
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