This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Mutations in the surfactant protein-C (SP-C) gene are responsible for familial a sporadic interstitial lung disease (ILD). The onsequences of such mutations or pulmonary surfactant composition and function are poorly understood. To determine the effects of a mutation in the SP-C gene on surfactant, we obtained lund tissue at the time of transplantation from a 14 month old infant with progressive ILD. An in-frame 9 base pair deletion spanning condons 91-93 ub Exon 3 of the SP-C gene was present on one allele; neither parent carried this deletion.
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