Lack of founder haplotype for the rapsyn N88K mu... [J Med Genet. 2004] - PubMed

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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. [J Med Genet. 2004]
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, et al. J Med Genet. 2004 Aug; 41(8):e104.
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. [J Med Genet. 2003]
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, et al. J Med Genet. 2003 Jun; 40(6):e81.
Common founder effect of rapsyn N88K studied using intragenic markers. [J Hum Genet. 2004]
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V, Maselli RA. J Hum Genet. 2004; 49(7):366-9. Epub 2004 Jun 8.
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. [Neurology. 2003]
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, et al. Neurology. 2003 Jun 10; 60(11):1805-10.
Review [Congenital myasthenic syndromes due to mutations in the rapsyn gene]. [Rev Neurol (Paris). 2004]
Review [Congenital myasthenic syndromes due to mutations in the rapsyn gene].
Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, et al. Rev Neurol (Paris). 2004 May; 160(5 Pt 2):S78-84.

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Cited by 1 PubMed Central article

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. [Neurology. 2009]
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Neurology. 2009 Jul 21; 73(3):228-35.

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Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient found...
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
J Med Genet. 2004 Jan ;41(1):e8.

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