Articles with "variants dmd" as a keyword



Photo from wikipedia

Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.

Sign Up to like & get
recommendations!
Published in 2022 at "Journal of human genetics"

DOI: 10.1038/s10038-022-01035-y

Abstract: Duchenne muscular dystrophy (DMD, MIM #310200) and Becker muscular dystrophy (BMD, MIM #300376) are X-linked recessive hereditary diseases caused by pathogenic variants in the DMD gene. Genetic testing of DMD identifies a certain number of… read more here.

Keywords: variants dmd; dmd gene; dmd; exon intron ... See more keywords