ABCC6 p.Tyr1239His

LOVD-ABCC6: p.Tyr1239* D
p.Tyr1239His D
Predicted by SNAP2: A: D (75%), C: D (71%), D: D (85%), E: D (91%), F: N (53%), G: D (85%), H: D (80%), I: D (63%), K: D (91%), L: D (71%), M: D (75%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (85%), T: D (85%), V: D (71%), W: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: 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,

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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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