Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

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http://www.wikidata.org/entity/Q44189634
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic catsRescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzymeARIX gene polymorphisms in patients with congenital superior oblique muscle palsyIdentification of cis-regulatory sequence variations in individual genome sequences.Erythrocyte disorders in the perinatal periodInsight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disordersRare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.Identifying gene regulatory elements by genomic microarray mapping of DNaseI hypersensitive sitesGenetic variation and gastric cancer risk: a field synopsis and meta-analysis.Safe and Efficient Gene Therapy for Pyruvate Kinase DeficiencyEx vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.Computational approach towards promoter sequence comparison via TF mapping using a new distance measure.A functional SNP upstream of the ADRB2 gene is associated with COPD.
P2860

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

Item
http://www.wikidata.org/entity/Q44189634
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@en
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@nl
type
label
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@en
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@nl
prefLabel
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@en
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Disruption of a novel regulato ...... re pyruvate kinase deficiency.
@en
P2093
P304
P31
P356
10.1182/BLOOD-2002-07-2321
P407
P433
P478
P50
P577
P5875
P698