Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

Molecular Diagnosis

Volumn 8, Issue 3, 2004, Pages 151-155

  Gilbert, Sandra L ^a   Ozdag, Fatih ^b   Ulas, Umit H ^b   Dobyns, William B ^a   Lahn, Bruce T ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b GULHANE SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GENOMIC DNA; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1; TRYPTOPHAN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; DNA DETERMINATION; DNA ISOLATION; DNA SEQUENCE; ELECTROPHORESIS; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; STARTLE EPILEPSY; TURKEY (REPUBLIC);

ALLELES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PEDIGREE; RECEPTORS, GLYCINE; STIFF-PERSON SYNDROME; TURKEY;

EID: 16344396456     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.2165/00066982-200408030-00002     Document Type: Article

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