Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference23 articles.
1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016
2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat. Genet.,2001
3. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report;Doubková;BMC Pulm. Med.,2019
4. Hermansky-Pudlak syndrome;El-Chemaly;Physiol. Behav.,2017
5. Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation;El-Chemaly;PLoS One,2018
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