Výsledky vyhledávání - "Caroline Grubben"

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Autor: D E Wilcox, Marc Jeanpierre, Stephen Abbs, Mireille Claustres, H Kääriäinen, Jaques E. Poncin, Giuliana Galluzzi, Kate Bushby, Manfred Stuhrmann, Maurizio Ferrari, Marie A. Melis, A. E. Covone, Christine Verellen-Dumoulin, Gert J B van Ommen, Egbert Bakker, Montserrat Baiget, Angus John Clarke, Marianne Schwartz, Christine Van Broeckhoven, S. Liechti-Gallati, Tiemo Grimm, Alessandra Ferlini, Hans Scheffer, Catherine Boileau, Anthonie J. van Essen, Astrid Speer, Leo P. ten Kate, Caroline Grubben

Publikováno v: HUMAN GENETICS, 88(3), 249-257. SPRINGER
Europe PubMed Central
ResearcherID
Human genetics

Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues pa

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