Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 753-766

  Ohno, Kinji ^a   Quiram, Polly A ^a   Milone, Margherita ^a   Wang, Hai Long ^a   Harper, Michel C ^a   Pruitt II, J Ned ^a   Brengman, Joan M ^a   Pao, Linda ^a   Fischbeck, Kenneth H ^b   Crawford, Thomas O ^c   Sine, Steven M ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^c JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; NEUROTRANSMITTER; NICOTINIC RECEPTOR; RECEPTOR SUBUNIT;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISSOCIATION; EATON LAMBERT SYNDROME; ELECTROPHYSIOLOGY; FEMALE; HUMAN; HUMAN TISSUE; MALE; MEMBRANE CHANNEL; MISSENSE MUTATION; MYASTHENIA; NERVE ENDING; NEUROTRANSMITTER RELEASE; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON;

EID: 8244225989     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.753     Document Type: Article

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