Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

Item
http://www.wikidata.org/entity/Q28289770
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease courseMutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumThe ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex DisordersAbcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion modelRegulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequenceABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.Pseudoxanthoma elasticum: genetic diagnostic markers.Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
P2860

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

Item
http://www.wikidata.org/entity/Q28289770
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@ast
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@en
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@nl
type
label
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@ast
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@en
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@nl
prefLabel
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@ast
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@en
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698