Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Neurology

Volumn 67, Issue 7, 2006, Pages 1159-1164

  Muller J S ^a   Baumeister, S K ^a   Rasic, V M ^c   Krause, S ^a   Todorovic, S ^c   Kugler, K ^b   Muller Felber W ^a   Abicht, A ^a   Lochmuller H ^a,d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF BELGRADE   (Serbia)

^d Friedrich Baur Institute   (Serbia)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; MESSENGER RNA; RAPSYN; RECEPTOR; RECEPTOR SUBUNIT;

ALLELE; ARTICLE; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; JOINT CONTRACTURE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; RAPSN GENE; RESPIRATORY TRACT DISEASE; RNA ANALYSIS; SCHOOL CHILD; WILD TYPE;

EID: 33749862204     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000233837.79459.40     Document Type: Article

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