Work

Novel mutations in the GALK1 gene in patients with galactokinase deficiency Communicated by Haig Kazazian Online Citation: Human Mutation, Mutation in Brief #394 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/394.pdf

Year: 2001

Type: article

Study design: Case Report

Source: Human Mutation

DOI: 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.3.co;2-8

Authors: Michael Hunter, Dora Angelicheva, Harvey L. Levy, Sigfried M. Pueschel, Luba Kalaydjieva

Institutions: Edith Cowan University, Harvard University, Brown University, Rhode Island Hospital, Harry Perkins Institute of Medical Research

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: Wellcome Trust

OpenAlex ID: W4247251841

FWCI:

Cites: 12

Cited by:

Related to: 10