ABCC6 p.Trp1223*

LOVD-ABCC6: p.Trp1223* D

[switch to compact view]
Comments [show]
Publications
[hide] Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL, Calvas P, Hovnanian A
Novel ABCC6 mutations in pseudoxanthoma elasticum.
J Invest Dermatol. 2004 Mar;122(3):608-13., [PMID:15086542] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13., [PMID:15894595] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[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] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[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] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]