Work

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

Year: 2000

Type: article

Source: Human Mutation

DOI: 10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j

Authors: Yuhuan Wang, Franco Taroni, Barbara Garavaglia, Nicola Longo

Institutions: Emory University, Fondazione IRCCS Istituto Neurologico Carlo Besta

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

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Award: THE CARNITINE TRANSPORTER IN HUMAN DISEASE

OpenAlex ID: W1993193666

FWCI: 2.364

Cites: 20

Cited by: 72

Related to: 10