Candidate Gene Analysis of the Surfactant Protein D Gene in Pediatric Diffuse Lung Disease - 23/11/13
Doi : 10.1016/j.jpeds.2013.06.063
W. Adam Gower, MD 1, ⁎ 
, Lawrence M. Nogee, MD 2
, Lawrence M. Nogee, MD 2 1 Section of Pediatric Pulmonology and Sleep Medicine, Department of Pediatrics, Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC
2 Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD
∗Reprint requests: Adam Gower, MD, Meads Hall, Medical Center Blvd, Winston-Salem, NC 27157.
Abstract |
Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.
Le texte complet de cet article est disponible en PDF.Keyword : DLD, SFTPD, SNP, SP
Plan
| Supported by the National Institutes of Health (R01 HL54703 [to L.N.] and NIH T32 HL072748) [to W.G., P.Z.; principal investigators] and The Hartwell Foundation (to W.G.). Both authors receive royalties for writing the review of Genetic Disorders of Surfactant Dysfunction for UpToDate (www.uptodate.com). The authors declare no conflicts of interest. |
© 2013
Mosby, Inc. Tous droits réservés.
Vol 163 - N° 6
P. 1778-1780 - décembre 2013 Retour au numéro
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