Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype

Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress s...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Delestrain, Céline, Simon, Stéphanie, Aissat, Abdel, Medina, Rachel, Decrouy, Xavier, Nattes, Elodie, Tarze, Agathe, Costes, Bruno, Fanen, Pascale, Epaud, Ralph
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2017
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477364/
https://ncbi.nlm.nih.gov/pubmed/28295039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.36
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