Work

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease

Year: 1998

Type: article

Study design: Observational Study

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

Authors: Jeffrey Chinsky, Melissa Appel, Shlomo Almashanu, Paul Costeas, Nicholas Ambulos, Rivka Carmi

Institutions: University of Maryland, Baltimore, Johns Hopkins University, Johns Hopkins Medicine, Soroka Medical Center

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

Funder: Health and Medical Research Fund

OpenAlex ID: W2080920657

FWCI: 0.23

Cites: 4

Cited by: 25

Related to: 10