CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
Van Ghelue, M, Wahl, C, Arntzen, K, Loseth, S, Bindoff, L, Sveberg, L, Rosby, O, Popperud, T, Rasmussen, M, Halvorsen, H, Lindal, S, Jonsrud, C, Orstavik, K
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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High-degree sequence conservation in LPA kringle IV-type 2 exons and introns
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Conference Proceeding
G.P.160 - CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
Van Ghelue, M., Wahl, C., Arntzen, K., Loseth, S., Bindoff, L., Sveberg, L., Rosby, O., Popperud, T., Rasmussen, M., Halvorsen, H., Lindal, S., Jonsrud, C., Orstavik, K.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects
Rødningen, O K, Røsby, O, Tonstad, S, Ose, L, Berg, K, Leren, T P
Published in Clinical genetics (01.12.1992)
Published in Clinical genetics (01.12.1992)
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A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects
Leren, T P, Solberg, K, Røsby, O, Rødningen, O K, Tonstad, S, Ose, L, Berg, K
Published in Clinical genetics (01.11.1992)
Published in Clinical genetics (01.11.1992)
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Unilateral cleft lip in a boy with Angelman syndrome
Rösby, O, Strömme, P, Sandsmark, M, Ramstad, K, Ormerod, E, Birger van der Hagen, C, Kubota, T, Ledbetter, D H, Orstavik, K H
Published in Journal of craniofacial genetics and developmental biology (01.04.1996)
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Published in Journal of craniofacial genetics and developmental biology (01.04.1996)
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Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop
Leren, T P, Solberg, K, Rødningen, O K, Røsby, O, Tonstad, S, Ose, L, Berg, K
Published in Human genetics (01.08.1993)
Published in Human genetics (01.08.1993)
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