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Volumn 49, Issue 7, 2004, Pages 366-369

Common founder effect of rapsyn N88K studied using intragenic markers

Author keywords

Common founder effect; Haplotype; Minisequencing; Rapsyn; Single nucleotide polymorphism

Indexed keywords

RAPSYN;

EID: 3843139250     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0159-y     Document Type: Article
Times cited : (8)

References (11)
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    • Inference of haplotypes from PCR-amplified samples of diploid populations
    • Clark AG (1990) Inference of haplotypes from PCR-amplified samples of diploid populations. Mol Biol Evol 7(2):111-122
    • (1990) Mol Biol Evol , vol.7 , Issue.2 , pp. 111-122
    • Clark, A.G.1
  • 3
    • 0038584915 scopus 로고    scopus 로고
    • Identification of pathogenic mutations in the human rapysn gene
    • Dunne VP, Maselli RA (2003) Identification of pathogenic mutations in the human rapysn gene. J Hum Genet 48:204-207
    • (2003) J Hum Genet , vol.48 , pp. 204-207
    • Dunne, V.P.1    Maselli, R.A.2
  • 4
    • 0037530441 scopus 로고    scopus 로고
    • Sleuthing molecular targets for neurological diseases at the neuromuscular junction
    • Engel AG, Ohno K, Sine SM (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 4(5):339-352
    • (2003) Nat Rev Neurosci , vol.4 , Issue.5 , pp. 339-352
    • Engel, A.G.1    Ohno, K.2    Sine, S.M.3
  • 5
    • 0029050847 scopus 로고
    • Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
    • Gautam M, Noakes PG, Mudd J, Nichol M, Chu GC, Sanes JR, Merlie JP (1995) Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature 337:232-236
    • (1995) Nature , vol.337 , pp. 232-236
    • Gautam, M.1    Noakes, P.G.2    Mudd, J.3    Nichol, M.4    Chu, G.C.5    Sanes, J.R.6    Merlie, J.P.7
  • 10
    • 0037390271 scopus 로고    scopus 로고
    • E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome
    • Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG (2003) E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 12:739-748
    • (2003) Hum Mol Genet , vol.12 , pp. 739-748
    • Ohno, K.1    Sadeh, M.2    Blatt, I.3    Brengman, J.M.4    Engel, A.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.