M. I. Skraastad
Leiden University
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Publication
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Human Genetics | 1986
M. H. Hofker; A.A.B. Bergen; M. I. Skraastad; Egbert Bakker; Uta Francke; B. Wieringa; J. Bartley; G.J.B. van Ommen; P.L. Pearson
SummaryWe have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy.
American Journal of Medical Genetics | 1992
Aad Tibben; Maria Vegter-van der Vlis; M. I. Skraastad; Petra G. Frets; Jacques J. P. Van Der Kamp; M. F. Niermeijer; Gert-Jan B. van Ommen; Raymund A.C. Roos; Harry G. M. Rooijmans; Dick Stronks; Frans Verhage
American Journal of Human Genetics | 1987
M. H. Hofker; Arthur A. B. Bergen; M. I. Skraastad; N. J. Carpenter; H. Veenema; J. M. Connor; E. Bakker; G.J.B. van Ommen; P.L. Pearson
American Journal of Human Genetics | 1986
M. H. Hofker; M. I. Skraastad; Arthur A. B. Bergen; Martin C. Wapenaar; E. Bakker; A. Millington-Ward; G.J.B. van Ommen; P.L. Pearson
Journal of Medical Genetics | 1993
K.E de Rooij; P.A.M de Koning Gans; M. I. Skraastad; René D.M. Belfroid; M. Vegter-Van Der Vlis; R.A.C. Roos; E. Bakker; G.J.B. van Ommen; J.T. den Dunnen; Monique Losekoot
Human Genetics | 1993
Cisca Wijmenga; SaraT. Winokur; GeorgeW. Padberg; M. I. Skraastad; Michael R. Altherr; John J. Wasmuth; Jeffrey C. Murray; Marten H. Hofker; Rune R. Frants
American Journal of Medical Genetics | 1991
M. I. Skraastad; Aart Verwest; Egbert Bakker; Maria Vegter-van der Vlis; Inge van Leeuwen-Cornelisse; Raymund A.C. Roos; Peter L. Pearson; Gert-Jan B. van Ommen
Nucleic Acids Research | 1987
E. Bakker; M. I. Skraastad; Y.M. Fisser-Groen; G.J.B. van Ommen; P.L. Pearson
American Journal of Human Genetics | 1992
M. I. Skraastad; E. van de Vosse; René D.M. Belfroid; K Höld; M. Vegter-Van Der Vlis; Lodewijk A. Sandkuijl; E. Bakker; G.J.B. van Ommen
Genomics | 1993
M. I. Skraastad; Karien E. de Rooij; Pia A.M. de Koning Gans; Aart Verwest; Maria Vegter-van der Vlis; Egbert Bakker; Johan T. den Dunnen; Gert-Jan B. van Ommen
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