SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Author:

Cantagrel Vincent,Lefeber Dirk J.,Ng Bobby G.,Guan Ziqiang,Silhavy Jennifer L.,Bielas Stephanie L.,Lehle Ludwig,Hombauer Hans,Adamowicz Maciej,Swiezewska Ewa,De Brouwer Arjan P.,Blümel Peter,Sykut-Cegielska Jolanta,Houliston Scott,Swistun Dominika,Ali Bassam R.,Dobyns William B.,Babovic-Vuksanovic Dusica,van Bokhoven Hans,Wevers Ron A.,Raetz Christian R.H.,Freeze Hudson H.,Morava Éva,Al-Gazali Lihadh,Gleeson Joseph G.

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

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3. An overview on 5alpha-reductase inhibitors;Aggarwal;Steroids,2010

4. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family;Al-Gazali;Am. J. Med. Genet. A.,2008

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