Doubková, Martina <br/><br/>
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.  [electronic resource] 

 -  BMC pulmonary medicine  Oct 2019 
 - 178 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1471-2466 
<br/><br/><label>Standard No.: </label>10.1186/s12890-019-0941-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Disease Progression<br/>Fatal Outcome<br/>Female<br/>Hermanski-Pudlak Syndrome--diagnosis<br/>Humans<br/>Lung--diagnostic imaging<br/>Membrane Proteins--genetics<br/>Middle Aged<br/>Mutation<br/>Pulmonary Fibrosis--diagnosis<br/>Severity of Illness Index<br/>Tomography, X-Ray Computed--methods<br/>Exome Sequencing--methods