Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
about
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic catsErythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogsRegulation of pyruvate metabolism and human diseaseTargeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.Novel mutations associated with pyruvate kinase deficiency in Brazil.First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.
P2860
Q21203566-0719CFB4-2111-42E5-8AE2-6EEA9596302FQ30419292-553008CF-3C52-4DA5-ACBE-354119C228E8Q33764544-D9A010CA-01C8-422B-BF05-FE8D5D79A81CQ35746050-7C9E2C05-1670-48E0-9E0B-BCE8ACAA2388Q35866917-3A272BB3-E231-49CC-B590-26ED5DB92545Q36379316-D57F79A6-96B1-45F2-9570-911310C7CBFEQ36532209-2E950D03-E59F-49C2-8CDD-E4A0A7B2321EQ50481648-667D32C0-D4C8-4C2F-AC3D-52D674450E23Q50528431-63F45AEE-6709-48F4-84AD-6997D889621AQ52666109-ADF9326D-ED6C-496D-9D7B-C9C4940AB545Q54542083-83F2BD31-B88B-43A4-87E5-C3801DDFC570
P2860
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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name
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@en
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@nl
type
label
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@en
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@nl
prefLabel
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@en
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@nl
P2093
P2860
P50
P1476
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
@en
P2093
Alberto Zanella
Cristina Vercellati
Frederic Cotton
Giovanna Valentini
Karin Writzl
Kerry Baker
Robin Rodwell
P2860
P304
P356
10.1111/J.1365-2141.2005.05520.X
P407
P577
2005-06-01T00:00:00Z