title: Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: Inge M
authors.initials: IM
authors.lastname: Mulder
authors.forename: Pieter
authors.initials: P
authors.lastname: van der Vlies
authors.forename: Annemarie H
authors.initials: AH
authors.lastname: van der Hout
authors.forename: Charles H C M
authors.initials: CH
authors.lastname: Buys
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010802:Phylogeny; D017354:Point Mutation
chemical_list: D016189:Dystrophin