Wu, Wenjuan <br/><br/>
A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.  [electronic resource] 

 -  Medicine  Aug 2019 
 - e16899 p.  digital 
<br/><br/> Publication Type: Journal Article; Observational Study 
<br/><br/><label>ISSN: </label>1536-5964 
<br/><br/><label>Standard No.: </label>10.1097/MD.0000000000016899  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>China<br/>Frameshift Mutation<br/>Genetic Testing<br/>Guanine Nucleotide Exchange Factors<br/>Hermanski-Pudlak Syndrome--genetics<br/>Humans<br/>Idiopathic Pulmonary Fibrosis--diagnostic imaging<br/>Male<br/>Middle Aged<br/>Proteins--genetics<br/>Sequence Analysis, DNA<br/>Siblings