Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

Journal of Medical Genetics

Volumn 33, Issue 5, 1996, Pages 435-436

  Elmslie, Frances V ^a   Hutchings, Simon M ^a   Spencer, Valerie ^b   Curtis, Ann ^b   Covanis, Thanos ^c   Gardiner, R Mark ^a   Rees, Michele ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

GLRA1; Glycine receptor; Hyperekplexia

Indexed keywords

GLYCINE RECEPTOR; RECEPTOR SUBUNIT;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CODON; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE HYPERTONIA; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION MAPPING; SPASTIC PARAPLEGIA; STARTLE REFLEX;

EID: 0029960845     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.5.435     Document Type: Article

References (12)

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