Work

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Year: 2004

Type: article

Study design: Observational Study

Source: Nature Genetics

DOI: 10.1038/ng1406

Authors: Heng F Seow, Stefan Bröer, Angelika Bröer, Charles G Bailey, Simon J Potter, Juleen A Cavanaugh, John E J Rasko

Institutions: The University of Sydney, Centenary Institute, Australian National University, Canberra Hospital, Royal Prince Alfred Hospital

Language: English

Topic: Amino Acid Enzymes and Metabolism

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1965204257

FWCI: 4.813

Cites: 31

Cited by: 278

Related to: 10