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Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Am J Hum Genet. 1995 Jul;57(1):8-21.
Am J Hum Genet. 1995.
PMID: 7611299
Free PMC article.
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.
Tiecke F, et al.
Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582.
Eur J Hum Genet. 2001.
PMID: 11175294
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