ABCC6 p.Phe952Cys

LOVD-ABCC6: p.Phe952Cys D
Predicted by SNAP2: A: N (66%), C: N (57%), D: D (75%), E: D (66%), G: D (63%), H: D (66%), I: N (72%), K: D (75%), L: N (82%), M: N (78%), N: D (66%), P: D (80%), Q: D (63%), R: D (71%), S: D (59%), T: D (53%), V: N (72%), W: D (59%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: N,

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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] Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG
[Pseudoxanthoma elasticum].
Ophthalmologe. 2006 Jun;103(6):537-51; quiz 552-3., [PMID:16763870]

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[hide] Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Hum Mutat. 2006 Aug;27(8):831., [PMID:16835894]

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[hide] Finger RP, Charbel Issa P, Ladewig M, Gotting C, Holz FG, Scholl HP
Fundus autofluorescence in Pseudoxanthoma elasticum.
Retina. 2009 Nov-Dec;29(10):1496-505., [PMID:19823106]

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