Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
DEN DUNNEN, J. T, GROOTSCHOLTEN, P. M, BAKKER, E, BLONDEN, L. A. J, GINJAAR, H. B, WAPENAAR, M. C, VAN PAASSEN, H. M. B, VAN BROECKHOVEN, C, PEARSON, P. L, VAN OMMEN, G. J. B
Published in American journal of human genetics (01.12.1989)
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Published in American journal of human genetics (01.12.1989)
Journal Article
Physical mapping of 14 new DNA markers isolated from the human distal Xp region
Wapenaar, M.C., Petit, C., Basler, E., Ballabio, A., Henke, A., Rappold, G.A., van Paassen, H.M.B., Blonden, L.A.J., van Ommen, G.J.B.
Published in Genomics (San Diego, Calif.) (01.05.1992)
Published in Genomics (San Diego, Calif.) (01.05.1992)
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Journal Article
Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization
Klasen, E.C., Hofker, M.H., van Paassen, H.M.B., Vries, M.Verlaan-de, Bos, J.L., Frants, R.R.
Published in Clinica chimica acta (01.12.1987)
Published in Clinica chimica acta (01.12.1987)
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Journal Article
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
KOENIG, M, BEGGS, A. H, DE LA CHAPELLE, A, KIURU, A, SAVONTAUS, M.-L, GILGENKRANTZ, H, RECAN, D, CHELLY, J, KAPLAN, J.-C, COVONE, A. E, ARCHIDIACONO, N, ROMEO, G, MOYER, M, SCHERPF, S, HEINDRICH, K, BETTECKEN, T, MENG, G, MÜLLER, C. R, LINDÖF, M, KAARIAINEN, H
Published in American journal of human genetics (01.10.1989)
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Published in American journal of human genetics (01.10.1989)
Journal Article
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization
Blonden, L A, den Dunnen, J T, van Paassen, H M, Wapenaar, M C, Grootscholten, P M, Ginjaar, H B, Bakker, E, Pearson, P L, van Ommen, G J
Published in Nucleic acids research (25.07.1989)
Published in Nucleic acids research (25.07.1989)
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Journal Article
A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen
Hofker, M H, Nukiwa, T, van Paassen, H M, Nelen, M, Kramps, J A, Klasen, E C, Frants, R R, Crystal, R G
Published in Human genetics (01.02.1989)
Published in Human genetics (01.02.1989)
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Journal Article
High resolution delection breakpoint mapping in the DMD gene by whole cosmid hybridization
BLONDEN, L. A. J, DEN DUNNEN, J. T, VAN PAASSEN, H. M. B, WAPENAAR, M. C, GROOTSCHOLTEN, P. M, GINJAAR, H. B, BAKKER, E, PEARSON, P. L, VAN OMMEN, G. J
Published in Nucleic acids research (1989)
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Published in Nucleic acids research (1989)
Journal Article