Startle disease in an Italian family by mutation (K276E): The α- subunit of the inhibiting glycine receptor

Human Mutation

Volumn 9, Issue 2, 1997, Pages 185-187

  Seri, Marco ^a   Bolino, Alessandra ^a   Galietta, Luis Juan Vicente ^a   Lerone, Margherita ^a   Silengo, Margherita ^b   Romeo, Giovanni ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE RECEPTOR;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; HUMAN; HYPERREFLEXIA; MUSCLE HYPERTONIA; POINT MUTATION; PRIORITY JOURNAL; STARTLE EPILEPSY; STARTLE REFLEX;

CHROMOSOMES, HUMAN, PAIR 5; EXONS; HUMANS; ITALY; MUSCLE HYPERTONIA; NERVOUS SYSTEM DISEASES; POINT MUTATION; RECEPTORS, GLYCINE; SEQUENCE ANALYSIS; STARTLE REACTION;

EID: 0030969399     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z     Document Type: Article

References (15)

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