Work

Eight novelABCD1gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Year: 2001

Type: article

Study design: Observational Study

Source: Human Mutation

DOI: 10.1002/humu.1149

Authors: L. Dvoráková, G. Štorkánová, G. Unterrainer, J. Hujová, S. Kmoch, J. Zeman, M. Hrebícek, J. Berger

Institutions: General University Hospital in Prague, University of Vienna

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: W2034204538

FWCI: 0.483

Cites: 41

Cited by: 23

Related to: 10