Work

Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population

Year: 2024

Type: article

Study design: Observational Study

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2024.119813

Authors: Xuyun Hu, Ruolan Guo, Zhan Qi, Yingzi Zhang, Wei Li, Chanjuan Hao

Institutions: Capital Medical University, Zhengzhou University, Zhengzhou Children's Hospital, Beijing Children’s Hospital, Beijing Tongren Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4399597079

FWCI: 0.738

Cites: 18

Cited by: 3

Related to: 10