Abstract
In humans, Surfactant Protein A exists as two highly homologous genetic isoforms, SFTPA1 and SFTPA2. Mutations in these two genes are associated with idiopathic pulmonary fibrosis (IPF) and lung cancer. We have developed a Sanger DNA sequencing assay which utilizes long-range PCR to detect mutations in these two genes.
Original language | English (US) |
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Pages (from-to) | 115-117 |
Number of pages | 3 |
Journal | Molecular and Cellular Probes |
Volume | 27 |
Issue number | 3-4 |
DOIs | |
State | Published - Jun 1 2013 |
Keywords
- Allele dropout
- DNA sequencing
- Long-range PCR
- Restriction enzyme
- SFTPA1
- SFTPA2
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology