Publications:

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

Bmc Pulmonary Medicine

Doubková, Martina M; Trizuljak, Jakub J; Vrzalová, Zuzana Z; Hrazdirová, Anna A; Blaháková, Ivona I; Radová, Lenka L; Pospíšilová, Šárka Š; Doubek, Michael M

Publication Date: 2019-10-16

Variant appearance in text: HPS5: 1581delA

PubMed Link: 31619213

Variant Present in the following documents:

• Main text
• 12890_2019_Article_941.pdf

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