Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report  Open access

BMC PULMONARY MEDICINE

Doubkova, M; Trizuljak, J; Vrzalova, Z; Hrazdirova, A; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC PULMONARY MEDICINE 19(1), doi: 10.1186/s12890-019-0941-4

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