Work

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

Year: 1993

Type: article

Source: Nature Genetics

DOI: 10.1038/ng0793-314

Authors: Franco Taroni, Elisabetta Verderio, Federica Dworzak, Patrick J. Willems, Patrizia Cavadini, Stefano DiDonato

Institutions: Fondazione IRCCS Istituto Neurologico Carlo Besta, University of Antwerp

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: W2041885357

FWCI: 5.326

Cites: 37

Cited by: 199

Related to: 10