Work

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Year: 2001

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s004390100569

Authors: Mark I. Rees, Trevor M. Lewis, Behnaz Vafa, Colin Ferrie, Peter Corry, Fransesco Muntoni, Heinz Jungbluth, John B. Stephenson, Mike Kerr, Russell G. Snell, Peter R. Schofield, Michael J. Owen

Institutions: University of Auckland, Garvan Institute of Medical Research, St. Luke's Hospital, Hammersmith Hospital, Royal Hospital for Children, Cardiff University, University of Wales

Language: English

Topic: Neuroscience and Neuropharmacology Research

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Australian Research Council, National Health and Medical Research Council, National Medical Research Council, Health Research Council of New Zealand

OpenAlex ID: W2064066585

FWCI: 1.601

Cites: 11

Cited by: 75

Related to: 10