Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. [electronic resource]
Producer: 20000207Description: 129-36 p. digitalISSN:- 0012-3692
- Adult
- Albinism, Oculocutaneous -- diagnostic imaging
- Cross-Sectional Studies
- DNA Primers -- chemistry
- DNA, Complementary -- genetics
- Exons
- Female
- Homozygote
- Humans
- Lung -- diagnostic imaging
- Male
- Membrane Proteins -- genetics
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- Prognosis
- Pulmonary Fibrosis -- diagnostic imaging
- Respiratory Function Tests
- Retrospective Studies
- Tomography, X-Ray Computed
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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