Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Human Molecular Genetics

Volumn 11, Issue 7, 2002, Pages 853-860

  Rees, Mark I ^a,d   Lewis, Trevor M ^b   Kwok, John B J ^b   Mortier, Geert R ^c   Govaert, Paul ^c   Snell, Russell G ^d   Schofield, Peter R ^b   Owen, Michael J ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GLYCINE RECEPTOR; GUANINE;

ALPHA CHAIN; ARTICLE; BETA CHAIN; BRAIN STEM; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EXON; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; LIGAND BINDING; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEUROTRANSMISSION; PHENOTYPE; PRIORITY JOURNAL; SPINAL CORD; STARTLE EPILEPSY; STARTLE REFLEX; TELOMERIC REPEAT AMPLIFICATION PROTOCOL;

CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NERVOUS SYSTEM DISEASES; RECEPTORS, GLYCINE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

MURINAE;

EID: 0036538280     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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