TY  - GEN
AU  - Mohamed,Miski
AU  - Cantagrel,Vincent
AU  - Al-Gazali,Lihadh
AU  - Wevers,Ron A
AU  - Lefeber,Dirk J
AU  - Morava,Eva
TI  - Normal glycosylation screening does not rule out SRD5A3-CDG
SN  - 1476-5438
PY  - 2012///0111
KW  - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
KW  - genetics
KW  - Frameshift Mutation
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Membrane Proteins
KW  - Sequence Analysis, DNA
KW  - methods
N1  - Publication Type: Letter; Comment
UR  - https://doi.org/10.1038/ejhg.2010.260
ER  -