Work

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

Year: 2013

Type: article

Study design: Case Report

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2013.45

Authors: Elham Jaberi, Fereshteh Chitsazian, Gholam Ali Shahidi, Mohammad Rohani, Farzad Sina, Iman Safari, Maryam Malakouti Nejad, Masoud Houshmand, Brandy Klotzle, Elahe Elahi

Institutions: University of Tehran, Tehran University of Medical Sciences, National Institute of Genetic Engineering and Biotechnology, Illumina (United States)

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: University of Tehran, Tehran University of Medical Sciences and Health Services

OpenAlex ID: W2001888407

FWCI: 3.388

Cites: 27

Cited by: 31

Related to: 10