Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
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sameAs
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosusMutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumPseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutationsEnhanced expression of basolateral multidrug resistance protein isoforms Mrp3 and Mrp5 in rat liver by LPSMultidrug resistance associated proteins in multidrug resistance.The utility of elastic Verhoeff-Van Gieson staining in dermatopathology.Pseudoxanthoma elasticum: genetic diagnostic markers.ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter.Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease.
P2860
Q24302408-628371A8-9ACE-452C-9914-CEED4B7687A2Q24648254-D3BE5A02-89E1-416F-B2C4-68372CF240B1Q24674089-8EB1ABD0-D405-4D10-9253-6D478DACB7CCQ28565596-E52CA86E-54E6-417F-87F5-48FED54E8113Q37958163-12A6EC07-7A52-47E9-BCEC-A4EB6D06AE2CQ38065260-D063A200-9577-4277-A9CF-DE014E62823FQ38088833-0D8E1E75-DF4C-4682-8CAE-53F95C38F670Q38355967-1A32060E-F0C1-44C4-93F2-4202EA8E3579Q42678391-16674DE8-E3D3-4268-B460-8D2C009332F5Q42793991-823AFDC2-2C72-4029-8337-CFE1D48B5412Q48278905-6711F0A7-DAB7-43C5-8F3E-B895E19B5F34Q49115051-B3D7CB69-BB84-430D-8606-EAA47121C88EQ53848350-3322C760-3765-4726-995D-197085EDD264
P2860
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@ast
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@en
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@nl
type
label
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@ast
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@en
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@nl
prefLabel
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@ast
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@en
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@nl
P2093
P50
P356
P1433
P1476
Pseudoxanthoma elasticum: Poin ...... including also ABCC1 and MYH11
@en
P2093
A M Bardelli
E Pianigiani
L Andreassi
M Bruttini
P356
10.1002/HUMU.1157
P407
P577
2001-01-01T00:00:00Z