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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
Novel arterial pathology in mice and humans hemizygous for elastin.
Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P, Boak B, Keating MT.
Li DY, et al.
J Clin Invest. 1998 Nov 15;102(10):1783-7. doi: 10.1172/JCI4487.
J Clin Invest. 1998.
PMID: 9819363
Free PMC article.
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Elastin is an essential determinant of arterial morphogenesis.
Li DY, Brooke B, Davis EC, Mecham RP, Sorensen LK, Boak BB, Eichwald E, Keating MT.
Li DY, et al. Among authors: boak bb.
Nature. 1998 May 21;393(6682):276-80. doi: 10.1038/30522.
Nature. 1998.
PMID: 9607766
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Defective angiogenesis in mice lacking endoglin.
Li DY, Sorensen LK, Brooke BS, Urness LD, Davis EC, Taylor DG, Boak BB, Wendel DP.
Li DY, et al. Among authors: boak bb.
Science. 1999 May 28;284(5419):1534-7. doi: 10.1126/science.284.5419.1534.
Science. 1999.
PMID: 10348742
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