Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.

Journal of medical genetics

Volumn 38, Issue 6, 2001, Pages

  Kwok, J B ^a   Raskin, S ^a   Morgan, G ^a   Antoniuk, S A ^a   Bruk, I ^a   Schofield, P R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1;

CASE REPORT; FEMALE; GENETICS; HUMAN; LETTER; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; PEDIGREE; PENETRANCE; STARTLE REFLEX;

FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; MUTATION, MISSENSE; PEDIGREE; PENETRANCE; RECEPTORS, GLYCINE; STARTLE REACTION;

MLCS; MLOWN;

EID: 0035378693     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.38.6.e17     Document Type: Letter

References (0)