Work

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

Year: 2001

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1006/mgme.2001.3235

Authors: Betty Y.L. Hsu, Vito Iacobazzi, Zhili Wang, Heidi Harvie, Ronald A. Chalmers, Jean-Marie Saudubray, Ferdinando Palmieri, Arupa Ganguly, Charles A. Stanley

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania, University of Bari Aldo Moro, St George's Hospital, St George's, University of London, Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades

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: National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Research Resources

Awards: G350064519, G463902449, General Clinical Research Center, Molecular Basis of a New Form of Hyperinsulinism, Islet Dysregulation in Infants with Congenital Hyperinsulinism, G986992970

OpenAlex ID: W2004767063

FWCI: 1.674

Cites: 31

Cited by: 37

Related to: 10