Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
van Essen
Anthonie J
AJ
Mulder
Inge M
IM
van der Vlies
Pieter
P
van der Hout
Annemarie H
AH
Buys
Charles H C M
CH
Hofstra
Robert M W
RM
den Dunnen
Johan T
JT
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
D016189:Dystrophin