Lefeber, Dirk J

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. [electronic resource] - PLoS genetics Dec 2011 - e1002427 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1553-7404

10.1371/journal.pgen.1002427 doi


Adolescent
Cardiomyopathy, Dilated--genetics
Child
Child, Preschool
Dolichol Phosphates--metabolism
Dystroglycans--metabolism
Female
Gene Expression
Genes, Recessive
Glycosylation
Haplotypes
Homozygote
Humans
Male
Pedigree
Phosphotransferases (Alcohol Group Acceptor)--deficiency
Saccharomyces cerevisiae--genetics
Sarcolemma--metabolism