Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

Journal of Clinical Investigation

Volumn 108, Issue 1, 2001, Pages 125-130

  Brownlow, S ^a   Webster, R ^a   Croxen, R ^a   Brydson, M ^a   Neville, B ^a   Lin, J P ^a   Vincent, A ^a   Newsom Davis, J ^a   Beeson, D ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CHILD; FEMALE; FETUS MOVEMENT; GENE EXPRESSION; GENE MUTATION; HUMAN; JOINT CONTRACTURE; MYASTHENIA GRAVIS; PRIORITY JOURNAL;

ACTION POTENTIALS; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ARTHROGRYPOSIS; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; FETAL PROTEINS; HUMANS; INFANT, NEWBORN; KINETICS; MALE; MOLECULAR SEQUENCE DATA; MOTOR ENDPLATE; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; MYASTHENIA GRAVIS; PHENOTYPE; PROTEIN ISOFORMS; PROTEIN SUBUNITS; RECEPTORS, CHOLINERGIC; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; VERTEBRATES;

EID: 0034932799     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200112935     Document Type: Article

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