Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms

Detailed DNA sequencing of the triple-helical domain of type III procollagen was carried out on cDNA prepared from 54 patients with aortic aneurysms. The 43 male and 11 female patients originated from 50 different families and five different nationalities. 43 patients had at least one additional blo...

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Veröffentlicht in:	The Journal of clinical investigation 1993-06, Vol.91 (6), p.2539-2545
Hauptverfasser:	TROMP, G, YULI WU, COLE, C. W, JAAKKOLA, P, RYYNÄNEN, M, PEARCE, W. H, YAO, J. S. T, KARI MAJAMAA, SMULLENS, S. N, GATALICA, Z, FERRELL, R. E, JIMENEZ, S. A, PROCKOP, D. J, JACKSON, C. E, MICHELS, V. V, KAYE, M, KUIVANIEMI, H, MADHATHERI, S. L, KLEINERT, C, EARLEY, J. J, JIAPIAO ZHUANG, NORRGÅRD, Ö, DARLING, R. C, ABBOTT, W. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged aneurysm Aneurysm - ethnology Aneurysm - etiology Aneurysm - genetics Base Sequence Biological and medical sciences Blood and lymphatic vessels Canada Cardiology. Vascular system Causality cDNA collagen Coronary Aneurysm - ethnology Coronary Aneurysm - genetics Diseases of the aorta Female Finland genes Genetic Variation Haiti Heterozygote Humans Male man Medical sciences Middle Aged Molecular Sequence Data Mutation nucleotide sequence Patients Polymerase Chain Reaction procollagen Procollagen - genetics Protein Conformation RNA, Messenger - genetics Sequence Analysis, DNA Sweden type III United States
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