20637498 |
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
Cantagrel, V,
Lefeber, DJ,
Ng, BG,
Guan, Z,
Silhavy, JL,
Bielas, SL,
Lehle, L,
Hombauer, H,
Adamowicz, M,
Swiezewska, E,
De Brouwer, AP,
Blümel, P,
Sykut-Cegielska, J,
Houliston, S,
Swistun, D,
Ali, BR,
Dobyns, WB,
Babovic-Vuksanovic, D,
van Bokhoven, H,
Wevers, RA,
Raetz, CR,
Freeze, HH,
Morava, E,
Al-Gazali, L,
Gleeson, JG
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Cell |
2010 |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Kahrizi, K,
Hu, CH,
Garshasbi, M,
Abedini, SS,
Ghadami, S,
Kariminejad, R,
Ullmann, R,
Chen, W,
Ropers, HH,
Kuss, AW,
Najmabadi, H,
Tzschach, A
|
Eur. J. Hum. Genet. |
2011 |
22240719 |
SRD5A3-CDG: a patient with a novel mutation
Kasapkara, CS,
Tümer, L,
Ezgü, FS,
Hasanoğlu, A,
Race, V,
Matthijs, G,
Jaeken, J
|
Eur. J. Paediatr. Neurol. |
2012 |