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Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.
Eur J Hum Genet. 2017 Jun;25(6):779-782. doi: 10.1038/ejhg.2017.36. Epub 2017 Mar 15.
Eur J Hum Genet. 2017.
PMID: 28295039
Free PMC article.
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
de Becdelièvre A, Costa C, Jouannic JM, LeFloch A, Giurgea I, Martin J, Médina R, Boissier B, Gameiro C, Muller F, Goossens M, Alberti C, Girodon E.
de Becdelièvre A, et al. Among authors: medina r.
Hum Genet. 2011 Apr;129(4):387-96. doi: 10.1007/s00439-010-0933-1. Epub 2010 Dec 24.
Hum Genet. 2011.
PMID: 21184098
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