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Volumn 58, Issue 2, 1996, Pages 420-422
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A novel mutation (Gln266→His) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia [1]
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Author keywords
[No Author keywords available]
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Indexed keywords
CHLORIDE;
COMPLEMENTARY DNA;
DNA;
GLUTAMINE;
GLYCINE RECEPTOR;
HISTIDINE;
PROTEIN;
ALPHA CHAIN;
AMINO ACID SUBSTITUTION;
CODON;
CONTROLLED STUDY;
DNA SEQUENCE;
EXON;
GENE;
GENE MUTATION;
HUMAN;
LETTER;
NEUROLOGIC DISEASE;
PRIORITY JOURNAL;
STARTLE EPILEPSY;
STARTLE REFLEX;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
CHROMOSOMES, HUMAN, PAIR 5;
FEMALE;
GENES, RECESSIVE;
HETEROZYGOTE;
HOMOZYGOTE;
HUMANS;
INFANT, NEWBORN;
ITALY;
MALE;
MOLECULAR SEQUENCE DATA;
NERVOUS SYSTEM DISEASES;
PEDIGREE;
POINT MUTATION;
RECEPTORS, GLYCINE;
STARTLE REACTION;
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EID: 0030023318
PISSN: 00029297
EISSN: None
Source Type: Journal
DOI: None Document Type: Letter |
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Times cited : (51)
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References (0)
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