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Bijlsma, E.K.
( E.K. Bijlsma)
mutation nf 2 protein protein nf 2 gene sequence family splice tumour exon 5 point branch point sequence branch wild-type result member meningioma ga transition patient fragment acceptor neurofibromatosi exons 5 mn 121 transcript intron position primers insertion donor detection splice acceptor site nf 2 family donor sites 106 bp phenotype sample figure control allele transcription /translation genetic transition genomic consensus analysis disease antibody lysate addition genet family members neurofibromatosis 2 gene nf 2 transcript nf 2 cdna 23 kda protein immunoprecipitation wild-type allele genomic dna 106 bp sequence meningioma mn 121. tumour mn 121 expression maeii 106 nt insertion blood lymphocytes nf 2 mrna 106 bp insertion consensus splice acceptor schwannoma branch point buffer zwarthoff gusella transfected formation right combination primer alternative restriction
1 Most Recent Publications
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A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2
(Article)
Klein, J.E.M.M. de Riegman, P.H.J. Bijlsma, E.K. Heldoorn, A. Muijtjens, M. Bakker, M.A. den Avezaat, C.J.J. Zwarthoff, E.C. |
1998-01-01
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