Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia

Journal of Biological Chemistry

Volumn 278, Issue 27, 2003, Pages 24688-24696

  Rees, Mark I ^a   Harvey, Kirsten ^b   Ward, Hamish ^a   White, Julia H ^c   Evans, Luc ^d   Duguid, Ian C ^b,g   Hsu, Cynthia C H ^a   Coleman, Sharon L ^e   Miller, Jan ^a   Baer, Kristin ^a   Waldvogel, Henry J ^a   Gibbon, Francis ^f   Smart, Trevor G ^b,g   Owen, Michael J ^a   Harvey, Robert J ^b   Snell, Russell G ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b UNIVERSITY OF LONDON   (United Kingdom)

^c GLAXOSMITHKLINE   (United Kingdom)

^d UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; CELL MEMBRANES; DISEASES; GENES; MUTAGENESIS; NEUROLOGY; TISSUE;

MUTATION ANALYSIS;

PROTEINS;

4 AMINOBUTYRIC ACID RECEPTOR; GEPHYRIN; GLYCINE RECEPTOR; CARRIER PROTEIN; ISOPROTEIN; MEMBRANE PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLUSTER ANALYSIS; DNA ISOLATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GEPHYRIN GENE; GLRA1 GENE; GLRB GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIGAND BINDING; MISSENSE MUTATION; NEUROTRANSMITTER RELEASE; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RECEPTOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STARTLE EPILEPSY; TWO HYBRID SYSTEM; AMINO ACID SEQUENCE; ANIMAL; BINDING SITE; EXON; GENETIC VARIABILITY; GENETICS; METABOLISM; MOLECULAR GENETICS; MOTOR NEURON DISEASE; MOUSE; MUTATION; PROTEIN BINDING; SEQUENCE ALIGNMENT;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; CARRIER PROTEINS; EXONS; HUMANS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUTATION; PROTEIN BINDING; PROTEIN ISOFORMS; RECEPTORS, GLYCINE; SEQUENCE ALIGNMENT; VARIATION (GENETICS);

EID: 0041589459     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M301070200     Document Type: Article

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