Work

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Year: 2000

Type: article

Study design: Case Report

Source: European Journal of Paediatric Neurology

DOI: 10.1053/ejpn.1999.0256

Authors: Peter L Rady, JM Penzien, Trini Vargas, Stephen K Tyring, Reuben Matalon

Institutions: The University of Texas Medical Branch at Galveston, University Hospital Augsburg

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 Institutes of Health, National Institute of Neurological Disorders and Stroke

Awards: G7728223623, KNOCKOUT MODEL FOR CANAVAN DISEASE

OpenAlex ID: W2084808174

FWCI: 0.564

Cites:

Cited by: 17

Related to: 10