Citations for
1MOCODA, MOCS1
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
Bayram E, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH.
Eur J Paediatr Neurol 17(1):1-6. doi: 10.1016/j.ejpn.2012.10.003. Epub 2012 Oct 31. 2013
2MOCODA, MOCS1
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J, Hahnewald R.
Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review. 2011
3GPHN, MOCODA, MOCODB, MOCODC, MOCS1, MOCS2
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J, Hahnewald R.
Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review. 2011
4MOCODA, MOCODB, MOCS1, MOCS2
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1 and MOCS2.
Reiss J, Hahnewald R.
Hum Mutat um Mutat. 2010 Oct 28. [Epub ahead of print]PMID: 21031595 2010
5MOCODA, MOCS1
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.
Dev Med Child Neurol 52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22. 2010
6MOCODA, MOCS1
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.
Arenas M, Fairbanks LD, Vijayakumar K, Carr L, Escuredo E, Marinaki AM.
J Inherit Metab Dis 32(4):560-9. doi: 10.1007/s10545-009-1151-7. Epub 2009 Jun 20. 2009
7MOCODA, MOCODB, MOCS1, MOCS2
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J.
Hum Genet 117(6):565-70. Epub 2005 Jul 14. 2005
8GPHN, MOCODA, MOCODC, MOCS1, MOCS2
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J, Johnson JL.
Hum Mutat 21(6):569-76. Review. 2003
9MOCODA, MOCODB, MOCS1, MOCS2
Genetics of molybdenum cofactor deficiency.
Reiss J.
Hum Genet 106(2):157-63. Review. 2000
10MOCODA, MOCS1
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
Reiss J, et al.
Nat Genet 20 : 51-53. 1998
11MOCODA, MOCS1
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.
Hum Genet 103 : 639-644. 1998