Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

about

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.A case of pseudoxantoma elasticum.

P2860

Q35470305-E2465946-CCF0-4218-854F-7BF8A4E82587 Q37004690-8C0AEF38-7213-4BC8-8AB6-09F65E93C25C

P2860

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

Item

http://www.wikidata.org/entity/Q33554058

description

2013 nî lūn-bûn

@nan

2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@ast

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@en

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum.

@nl

type

Item

label

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@ast

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@en

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum.

@nl

prefLabel

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@ast

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@en

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum.

@nl

P1476

Clinical phenotypes and ABCC6 ...... with pseudoxanthoma elasticum

@en

P2093

Caroline Silvério Faria

http://www.w3.org/2001/XMLSchema#string

Dertia Villalba Freire-Maia

http://www.w3.org/2001/XMLSchema#string

Haitao Guo

http://www.w3.org/2001/XMLSchema#string

Marilia de Arruda Cardoso Smith

http://www.w3.org/2001/XMLSchema#string

Qiaoli Li

http://www.w3.org/2001/XMLSchema#string

Sylvia Satomi Takeno

http://www.w3.org/2001/XMLSchema#string

P2860

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.

Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

P304

739-740

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.2340/00015555-1570

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Jouni Uitto

P577

2013-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

236188570

http://www.w3.org/2001/XMLSchema#string

P698

23572048

http://www.w3.org/2001/XMLSchema#string

P932

4006978

http://www.w3.org/2001/XMLSchema#string

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

about

P2860

P2860

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932