The congenital myasthenic syndrome mutation RAPS... [J Med Genet. 2004] - PubMed

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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.
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. [J Med Genet. 2004]
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno K, Engel AG. J Med Genet. 2004 Jan; 41(1):e8.
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.
Review Congenital myasthenic syndromes. [Curr Opin Neurol. 2004]
Review Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Curr Opin Neurol. 2004 Oct; 17(5):539-51.

See reviews... See all...

Cited by 1 PubMed Central article

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. [Am J Hum Genet. 2008]
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER. Am J Hum Genet. 2008 Jan; 82(1):222-7.

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