| 1 | MRXS30, UBE2A
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| A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
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| Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K.
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| Hum Genome Var 4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.
2017
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| 2 | MRXS30, UBE2A
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| UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
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| Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M.
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| Am J Med Genet A 167A(1):204-10. doi: 10.1002/ajmg.a.36800. Epub 2014 Oct 6.
2015
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| 3 | DELXQM, MRXS30, UBE2A
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| Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
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| Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J.
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| J Hum Genet 55(4):244-7. Epub 2010 Mar 26. 2010
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| 4 | MRXS30, UBE2A
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| Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
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| Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.
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| Clin Genet 77(6):541-51. Epub 2010 Apr 19.PMID: 20412111 2010
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| 5 | UBE2A, MRXS30
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| UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome.
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| Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.
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| Am J Hum Genet 79(3):549-55. Epub 2006 Jul 3. 2006
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