TY  - GEN
AU  - Cantagrel,Vincent
AU  - Lefeber,Dirk J
AU  - Ng,Bobby G
AU  - Guan,Ziqiang
AU  - Silhavy,Jennifer L
AU  - Bielas,Stephanie L
AU  - Lehle,Ludwig
AU  - Hombauer,Hans
AU  - Adamowicz,Maciej
AU  - Swiezewska,Ewa
AU  - De Brouwer,Arjan P
AU  - Blümel,Peter
AU  - Sykut-Cegielska,Jolanta
AU  - Houliston,Scott
AU  - Swistun,Dominika
AU  - Ali,Bassam R
AU  - Dobyns,William B
AU  - Babovic-Vuksanovic,Dusica
AU  - van Bokhoven,Hans
AU  - Wevers,Ron A
AU  - Raetz,Christian R H
AU  - Freeze,Hudson H
AU  - Morava,Eva
AU  - Al-Gazali,Lihadh
AU  - Gleeson,Joseph G
TI  - SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
SN  - 1097-4172
PY  - 2010///0816
KW  - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
KW  - genetics
KW  - Abnormalities, Multiple
KW  - metabolism
KW  - Animals
KW  - Butadienes
KW  - Consanguinity
KW  - Dolichols
KW  - Embryo, Mammalian
KW  - Genome-Wide Association Study
KW  - Glycosylation
KW  - Hemiterpenes
KW  - Humans
KW  - Intellectual Disability
KW  - Membrane Proteins
KW  - Mice
KW  - Mutation
KW  - Pentanes
KW  - Saccharomyces cerevisiae
KW  - Saccharomyces cerevisiae Proteins
KW  - Unfolded Protein Response
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.cell.2010.06.001
ER  -