A novel recessive hyperekplexia allele GLRA1 (S231R): Genotypng by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

European Journal of Human Genetics

Volumn 10, Issue 3, 2002, Pages 188-196

  Humeny, Andreas ^a   Bonk, Thomas ^a   Becker, Kristina ^a   Jafari Boroujerdi, Mehrdad ^b   Stephani, Ulrich ^b   Reuter, Klaus ^a,c   Becker, Cord Michael ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Genotyping; Glycine; Hyperekplexia; MALDI TOF MS; Receptor; Startle disease

Indexed keywords

ARGININE; CELL SURFACE RECEPTOR; GLYCINE RECEPTOR; PRIMER DNA; SERINE;

ALLELE; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA SEQUENCE; ELECTROPHYSIOLOGY; EXON; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RECOMBINATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT DISEASE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MOLECULAR GENETICS; MUSCLE HYPERTONIA; NEUROLOGIC DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; STARTLE EPILEPSY; STIFF MAN SYNDROME;

BASE SEQUENCE; CELL LINE; CHILD; DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; EXONS; FAMILY HEALTH; FATHERS; FEMALE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION; PEDIGREE; POINT MUTATION; RECEPTORS, GLYCINE; RECOMBINANT PROTEINS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; STARTLE REACTION;

EID: 85047700016     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200779     Document Type: Article

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