Results 141 to 150 of about 2,622 (152)

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.

Human genetics, 2008
Licínio, Manco, Luís, Relvas, Umbelina, Rebelo, Julia, Vidán, M Letícia, Ribeiro   +4 more
openaire   +1 more source

Consequences at mrna level of the pklr gene splicing mutations IVS10(+1)G→C and IVS8(+2)T→G causing pyruvate kinase deficiency

British Journal of Haematology, 2002
Licinio Manco
exaly  

Malaria: looking for selection signatures in the human PKLR gene region

British Journal of Haematology, 2010
Licinio Manco, Rui Pereira, Antonio Amorim   +2 more
exaly  

A Novel and a Previously Described Compound HeterozygousPKLRGene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child

Fetal and Pediatric Pathology, 2014
Ruen Yao
exaly  

COMPOSITIONS AND METHODS FOR ENHANCED GENE EXPRESSION OF PKLR

2017
GOMEZ MARIA G, NAVARRO SUSANA, MEZA NESTOR, BUEREN JUAN, BRAVO MARIA G, SEGOVIA JOSE C   +5 more
openaire   +3 more sources

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

International Journal of Laboratory Hematology, 2017
Alexandra Silva
exaly  

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

Human genetics, 2009
Licinio, Manco, M Leticia, Ribeiro
openaire   +4 more sources

A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.

Acta haematologica, 2005
Jeong Ok, Park-Hah, Hitoshi, Kanno, Won Duck, Kim, Hisaichi, Fujii   +3 more
openaire   +1 more source

Targeting PKLR in liver diseases

Trends in Endocrinology and Metabolism
Özlem Altay, Cheng Zhang, Adil Mardinoğlu   +2 more
exaly  

Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression

American Journal of Hematology, 2014
exaly