Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Journal of medical genetics

Volumn 40, Issue 6, 2003, Pages

  Richard, P ^a   Gaudon, K ^a   Andreux, F ^a   Yasaki, E ^a   Prioleau, C ^a   Bauche S ^a   Barois, A ^a   Ioos, C ^a   Mayer, M ^a   Routon, M C ^a   Mokhtari, M ^a   Leroy, J P ^a   Fournier, E ^a   Hainque, B ^a   Koenig, J ^a   Fardeau, M ^a   Eymard, B ^a   Hantai D ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; LYSINE; MUSCLE PROTEIN; NICOTINIC RECEPTOR; PERIPHERAL MEMBRANE PROTEIN 43K;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL TRIAL; CONGENITAL MYASTHENIC SYNDROME; FEMALE; FOUNDER EFFECT; GENETICS; HUMAN; INFANT; MALE; MULTICENTER STUDY; MUTATION; PEDIGREE; PRESCHOOL CHILD;

ADULT; AMINO ACID SUBSTITUTION; ASPARAGINE; CHILD; CHILD, PRESCHOOL; FEMALE; FOUNDER EFFECT; HUMANS; INFANT; LYSINE; MALE; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; RECEPTORS, NICOTINIC;

EID: 0037805256     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.6.e81     Document Type: Article

References (0)