Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

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http://www.wikidata.org/entity/Q37623356
The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex DisordersEctopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcificationENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancyDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant miceMouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypesGenetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of InfancyMineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) miceAnalysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissue mineralization.PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.Pathological calcification and the mystery of Lot's wife.Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates.
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Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

Item
http://www.wikidata.org/entity/Q37623356
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 September 2013
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@en
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@nl
type
label
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@en
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@nl
prefLabel
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@en
Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@nl
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P1476
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P5875
P6179
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Mutations in the ABCC6 gene as ...... with pseudoxanthoma elasticum.
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P932