The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Journal of medical genetics

Volumn 41, Issue 8, 2004, Pages

  Muller J S ^a   Abicht, A ^a   Burke, G ^a   Cossins, J ^a   Richard, P ^a   Baumeister, S K ^a   Stucka, R ^a   Eymard, B ^a   Hantai D ^a   Beeson, D ^a   Lochmuller H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

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

CONGENITAL MYASTHENIC SYNDROME; EUROPE; FOUNDER EFFECT; GENETICS; HUMAN; INDIA; LETTER; MISSENSE MUTATION; MOLECULAR EVOLUTION;

ASPARAGINE; EUROPE; EVOLUTION, MOLECULAR; FOUNDER EFFECT; HUMANS; INDIA; LYSINE; MUSCLE PROTEINS; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL;

EID: 6944241974     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.021139     Document Type: Letter

References (0)