| 1 | COL4A1, COSS
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| Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
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| Tomotaki S, Mizumoto H, Hamabata T, Kumakura A, Shiota M, Arai H, Haginoya K, Hata D.
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| Pediatr Neonatol ediatr Neonatol. 2014 May 23. pii: S1875-9572(14)00065-5. doi: 10.1016/j.pedneo.2014.04.001. [Epub ahead of print]
2014
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| 2 | COL4A1, COSS
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| Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
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| Lemmens R, Maugeri A, Niessen HW, Goris A, Tousseyn T, Demaerel P, Corveleyn A, Robberecht W, van der Knaap MS, Thijs VN, Zwijnenburg PJ.
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| Hum Mol Genet 22(2):391-7. doi: 10.1093/hmg/dds436. Epub 2012 Oct 12.
2013
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| 3 | COL4A1, COL4A2, COSS
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| COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke.
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| Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.
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| Am J Hum Genet 90(1):91-101. Epub 2011 Dec 29. 2012
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| 4 | COL4A1, COSS
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| Childhood presentation of COL4A1 mutations.
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| Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.
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| Dev Med Child Neurol 54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.
2012
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| 5 | COL4A1, COL4A2, COSS
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| COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
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| Kuo DS, Labelle-Dumais C, Gould DB.
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| Hum Mol Genet 21(R1):R97-110. Epub 2012 Aug 21. Review.
2012
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| 6 | COL4A1, COSS
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| COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
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| Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.
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| Neuropediatrics 42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1.
2011
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| 7 | COL4A1, COL4A2, COSS
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| Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
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| Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.
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| Curr Med Chem 17(13):1317-24. Review. 2010
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