Work

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Year: 2000

Type: article

Study design: Case Report

Source: Human Genetics

DOI: 10.1007/s004399900218

Authors: B. Parfait, D. Chretien, A. Rötig, C. Marsac, A. Munnich, P. Rustin

Institutions: Hôpital Necker-Enfants Malades, Inserm

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

OpenAlex ID: W4240879279

FWCI: 7.272

Cites: 27

Cited by: 215

Related to: 10