Article
Adult-onset pulmonary fibrosis caused by mutations in telomerase.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 2007
Tsakiri Kalliopi D, Cronkhite Jennifer T, Kuan Phillip J, Xing Chao, Raghu Ganesh, Weissler Jonathan C, Rosenblatt Randall L, Shay Jerry W, Garcia Christine Kim
Abstract excerpt
Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that...
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