Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
about
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumMutation 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 LPSAlu-mediated 100-kb deletion in the primate genome: the loss of the agouti signaling protein gene in the lesser apesTargeted ablation of the abcc6 gene results in ectopic mineralization of connective tissuesMolecular genetics of pseudoxanthoma elasticum.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumCopy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticumHNF4alpha and NF-E2 are key transcriptional regulators of the murine Abcc6 gene expression.Pseudoxanthoma elasticum: molecular genetics and putative pathomechanismsIncidental copy-number variants identified by routine genome testing in a clinical population.Pseudoxanthoma elasticum and sudden death.Multidrug resistance associated proteins in multidrug resistance.Pseudoxanthoma elasticum: genetic diagnostic markers.ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.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.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
P2860
Q24533380-F08E136D-086E-4EB9-91A3-33D284313948Q24648254-88B14C9B-EB7E-4EA8-A3A3-932ABFE6C173Q24674089-7E603CDB-9DEB-45F7-A811-12333F4D9717Q28565596-7DB90808-EE24-4900-963D-7F8D6DD25991Q28768074-4EACF3D5-EC49-47D3-9719-A41AE4C4024AQ34042814-576E02DA-B221-44E6-BADB-C1AFBEB56BB7Q34330016-34CCE02E-FEB5-404E-B80D-2BF1298C3B01Q34354851-F40A22E4-64CA-4C68-963D-3D6C1AFA5E1AQ35228927-3074DEA1-1C52-482A-A7AF-C67BD6ED7330Q35648089-6A263BC2-DF7F-4954-8BFC-5641826B9726Q35809603-FE1BF6AA-C7F5-4E4B-BBA7-B974A951EC1EQ35950515-14924CA4-954D-43EF-9F5A-4898C36B78FBQ36995191-19B38C97-A450-44DC-945C-9997B809F70DQ37826440-5094B457-2ACB-49B1-8591-7E361D35F976Q37958163-14A9F4C8-AE12-4659-BEAA-DD6DB20A6664Q38088833-A3C7B789-E6EF-4E3A-9DA1-EEB59442FB8AQ38355967-7ADB1AC3-6C5D-4BB5-A795-DA43B2CC05D7Q40341039-C9B3154D-780A-4D29-8353-1D57BD78DF79Q42793991-BB29A80D-91CB-4BE5-8748-F9AB9E7EE3BFQ48335157-51AF7FB3-CAD0-4B91-A362-D0DC3D753E5EQ49075196-D49951A7-02DF-4273-B920-4D069840D1F5Q49115051-11DE7C51-E585-4FE2-9034-AB85B07235AEQ54741653-D3BA0617-D83D-4C2C-98CB-BD3B37B07DCF
P2860
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին 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
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@ast
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@en
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@nl
type
label
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@ast
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@en
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@nl
prefLabel
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@ast
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@en
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@nl
P2093
P2860
P356
P1476
Compound heterozygosity for a ...... ts in pseudoxanthoma elasticum
@en
P2093
P2860
P304
P356
10.1086/318807
P407
P577
2001-02-09T00:00:00Z