Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]
Møller, L.B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L.J., Ostergaard, J.R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K.M., Gregersen, P.A., Jensen, U.B.
Published in Molecular genetics and metabolism (01.12.2018)
Published in Molecular genetics and metabolism (01.12.2018)
Get full text
Journal Article
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing: COL7A1 mutation in dominant DEB pruriginosa
Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G., Gregersen, P.A., Sommerlund, M., Hertz, J.M., Castiglia, D.
Published in British journal of dermatology (1951) (01.09.2011)
Published in British journal of dermatology (1951) (01.09.2011)
Get full text
Journal Article
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.
Published in British journal of dermatology (1951) (01.08.2014)
Published in British journal of dermatology (1951) (01.08.2014)
Get full text
Journal Article
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G., Gregersen, P.A., Sommerlund, M., Hertz, J.M., Castiglia, D.
Published in British journal of dermatology (1951) (01.09.2011)
Published in British journal of dermatology (1951) (01.09.2011)
Get full text
Journal Article