Normal glycosylation screening does not rule out SRD5A3-CDG.

Mohamed, Miski

Normal glycosylation screening does not rule out SRD5A3-CDG. [electronic resource] - European journal of human genetics : EJHG Oct 2011 - 1019 p. digital

Publication Type: Letter; Comment

1476-5438

10.1038/ejhg.2010.260 doi


3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics
Frameshift Mutation--genetics
Genes, Recessive--genetics
Homozygote
Humans
Intellectual Disability--genetics
Membrane Proteins--genetics
Sequence Analysis, DNA--methods