ABCC6 p.Leu946Ile

LOVD-ABCC6: p.Leu946Ile D
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (95%), E: D (95%), F: D (75%), G: D (91%), H: D (91%), I: N (87%), K: D (95%), M: D (71%), N: D (91%), P: D (95%), Q: D (91%), R: D (95%), S: D (91%), T: D (85%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: N,

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[hide] Morcher M, Hausser I, Brandt T, Grond-Ginsbach C
Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
J Neurol. 2003 Aug;250(8):983-6., [PMID:12928920]

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[hide] Hendig D, Schulz V, Eichgrun J, Szliska C, Gotting C, Kleesiek K
New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
J Mol Med (Berl). 2005 Feb;83(2):140-7. Epub 2004 Nov 10., [PMID:15723264]

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[hide] Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Hum Mutat. 2005 Sep;26(3):235-48., [PMID:16086317]

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[hide] Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
J Dermatol Sci. 2009 Jun;54(3):198-204. Epub 2009 Mar 31., [PMID:19339160]

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[hide] Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF
Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.
J Mol Diagn. 2007 Feb;9(1):105-12., [PMID:17251343]

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[hide] De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.
Br J Ophthalmol. 2010 Apr;94(4):479-86. Epub 2009 Sep 1., [PMID:19726431]

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[hide] Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.
PLoS One. 2014 Jul 25;9(7):e102779. doi: 10.1371/journal.pone.0102779. eCollection 2014., [PMID:25062064]

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