Work

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Year: 2000

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1016/s0002-9297(07)62940-1

Authors: Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier-Daire, Arnold Munnich, Jean-Paul Bonnefont, Pierre Rustin, Agnès Rötig

Institutions: Hôpital Necker-Enfants Malades, Inserm

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2058697823

FWCI: 7.616

Cites: 31

Cited by: 369

Related to: 10