The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor

European Journal of Human Genetics

Volumn 16, Issue 2, 2008, Pages 223-228

  Becker, Kristina ^a   Breitinger, Hans Georg ^a   Humeny, Andreas ^a   Meinck, Hans Michael ^b   Dietz, Bernd ^c   Aksu, Fuat ^c   Becker, Cord Michael ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY OF WITTEN HERDECKE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; ASPARAGINE; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1; SERINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CONTROLLED STUDY; DRUG RESPONSE; ELECTROPHYSIOLOGY; HUMAN; HUMAN CELL; HYPEREKPLEXIA; HYPERREFLEXIA; INFANT; MALE; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR AFFINITY;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; BINDING SITES; CELL LINE; ETHANOL; FEMALE; HUMANS; INFANT; MALE; PEDIGREE; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION; STIFF-PERSON SYNDROME;

EID: 38349087853     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201958     Document Type: Article

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