Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

BACKGROUND: Short telomeres are a common defect in idiopathic pulmonary fibrosis, yet mutations in the telomerase genes account for only a subset of these cases. METHODS: We identified a family with pulmonary fibrosis, idiopathic infertility, and short telomeres. RESULTS: Exome sequencing of blood-d...

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Publicado en:Chest
Autores principales: Alder, Jonathan K., Stanley, Susan E., Wagner, Christa L., Hamilton, Makenzie, Hanumanthu, Vidya Sagar, Armanios, Mary
Formato: Artigo
Lenguaje:Inglês
Publicado: American College of Chest Physicians 2015
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Original Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4420184/
https://ncbi.nlm.nih.gov/pubmed/25539146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1378/chest.14-1947
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