Work

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Year: 1999

Type: article

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1999)13:4<286::aid-humu4>3.0.co;2-c

Authors: Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau, Beat Th�ny

Institutions: University of Zurich, University Children's Hospital Zurich, Boston Children's Hospital, Harvard University

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: W2056964383

FWCI: 0.712

Cites: 17

Cited by: 14

Related to: 10