| 1 | MOCODA, MOCS1
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| Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
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| Bayram E, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH.
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| Eur J Paediatr Neurol 17(1):1-6. doi: 10.1016/j.ejpn.2012.10.003. Epub 2012 Oct 31.
2013
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| 2 | MOCODA, MOCS1
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| Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
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| Reiss J, Hahnewald R.
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| Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review.
2011
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| 3 | GPHN, MOCODA, MOCODB, MOCODC, MOCS1, MOCS2
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| Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
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| Reiss J, Hahnewald R.
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| Hum Mutat 32(1):10-8. doi: 10.1002/humu.21390. Review.
2011
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| 4 | MOCODA, MOCODB, MOCS1, MOCS2
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| Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1 and MOCS2.
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| Reiss J, Hahnewald R.
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| Hum Mutat um Mutat. 2010 Oct 28. [Epub ahead of print]PMID: 21031595 2010
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| 5 | MOCODA, MOCS1
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| Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
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| Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.
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| Dev Med Child Neurol 52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22.
2010
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| 6 | MOCODA, MOCS1
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| An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.
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| Arenas M, Fairbanks LD, Vijayakumar K, Carr L, Escuredo E, Marinaki AM.
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| J Inherit Metab Dis 32(4):560-9. doi: 10.1007/s10545-009-1151-7. Epub 2009 Jun 20.
2009
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| 7 | MOCODA, MOCODB, MOCS1, MOCS2
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| 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.
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| Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J.
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| Hum Genet 117(6):565-70. Epub 2005 Jul 14. 2005
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| 8 | MOCS1
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| Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.
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| Hanzelmann P, Hernandez HL, Menzel C, Garcia-Serres R, Huynh BH, Johnson MK, Mendel RR, Schindelin H.
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| J Biol Chem 279(33):34721-32. Epub 2004 Jun 4. 2004
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| 9 | GPHN, MOCODA, MOCODC, MOCS1, MOCS2
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| Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
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| Reiss J, Johnson JL.
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| Hum Mutat 21(6):569-76. Review. 2003
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| 10 | MOCS1
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| The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.
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| Gross-Hardt S, Reiss J.
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| Mol Genet Metab 76(4):340. 2002
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| 11 | MOCODA, MOCODB, MOCS1, MOCS2
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| Genetics of molybdenum cofactor deficiency.
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| Reiss J.
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| Hum Genet 106(2):157-63. Review. 2000
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| 12 | MOCS1
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| Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.
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| Stallmeyer B, et al.
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| Am J Hum Genet 64(3):698-705. 1999
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| 13 | MOCS1
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| Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
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| Shalata A, et al.
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| Am J Hum Genet 63 : 148-154. 1998
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| 14 | MOCODA, MOCS1
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| Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
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| Reiss J, et al.
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| Nat Genet 20 : 51-53. 1998
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| 15 | MOCODA, MOCS1
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| Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
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| Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.
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| Hum Genet 103 : 639-644. 1998
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