Novel Mutations in OCTN2 Identified in Newborn Screening Exhibit Reduced Function and Lead to Carnitine Transporter Deficiency
Year: 2020
Type: conference-abstract
Source: The FASEB Journal
Authors: Megan Koleske, Kathleen Giacomini
Institution: University of California, San Francisco
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W3016680922