Work

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Year: 2004

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/421530

Authors: Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, Aida Inbal, Nathan Fischel-Ghodsian

Institutions: Cedars-Sinai Medical Center, Tel Aviv University, Sheba Medical Center

Language: English

Topic: RNA modifications and cancer

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute on Deafness and Other Communication Disorders

Awards: G1054697420, G3368550654

OpenAlex ID: W2053633780

FWCI: 2.733

Cites: 31

Cited by: 318

Related to: 10