Article
Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis.
American journal of respiratory and critical care medicine - 15 May 2016
Mathai Susan K, Pedersen Brent S, Smith Keith, Russell Pamela, Schwarz Marvin I, Brown Kevin K, Steele Mark P, Loyd James E, Crapo James D, Silverman Edwin K, Nickerson Deborah, Fingerlin Tasha E, Yang Ivana V, Schwartz David A
Abstract excerpt
RATIONALE: Sequence variation, methylation differences, and transcriptional changes in desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF). OBJECTIVES: To identify novel variants in DSP associated with IPF and to characterize the relationship of these IPF sequence variants with DSP gene expression in human lung. METHODS: A chromosome 6 locus (7,370,061-7,606,946) was...
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