163 related articles for article (PubMed ID: 9166866)
1. Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.
Kanno H; Fujii H; Wei DC; Chan LC; Hirono A; Tsukimoto I; Miwa S
Blood; 1997 Jun; 89(11):4213-8. PubMed ID: 9166866
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.
Zanella A; Bianchi P; Fermo E; Iurlo A; Zappa M; Vercellati C; Boschetti C; Baronciani L; Cotton F
Br J Haematol; 2001 Apr; 113(1):43-8. PubMed ID: 11328279
[TBL] [Abstract][Full Text] [Related]
3. Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain.
Kanno H; Morimoto M; Fujii H; Tsujimura T; Asai H; Noguchi T; Kitamura Y; Miwa S
Blood; 1995 Oct; 86(8):3205-10. PubMed ID: 7579416
[TBL] [Abstract][Full Text] [Related]
4. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.
Zanella A; Bianchi P; Baronciani L; Zappa M; Bredi E; Vercellati C; Alfinito F; Pelissero G; Sirchia G
Blood; 1997 May; 89(10):3847-52. PubMed ID: 9160692
[TBL] [Abstract][Full Text] [Related]
5. Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.
Kanno H; Wei DC; Chan LC; Mizoguchi H; Ando M; Nakahata T; Narisawa K; Fujii H; Miwa S
Blood; 1994 Nov; 84(10):3505-9. PubMed ID: 7949104
[TBL] [Abstract][Full Text] [Related]
6. A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.
Manco L; Ribeiro ML; Máximo V; Almeida H; Costa A; Freitas O; Barbot J; Abade A; Tamagnini G
Br J Haematol; 2000 Sep; 110(4):993-7. PubMed ID: 11054094
[TBL] [Abstract][Full Text] [Related]
7. Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats.
Grahn RA; Grahn JC; Penedo MC; Helps CR; Lyons LA
BMC Vet Res; 2012 Oct; 8():207. PubMed ID: 23110753
[TBL] [Abstract][Full Text] [Related]
8. Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.
Diez A; Gilsanz F; Martinez J; Pérez-Benavente S; Meza NW; Bautista JM
Blood; 2005 Sep; 106(5):1851-6. PubMed ID: 15870173
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.
Lenzner C; Nürnberg P; Thiele BJ; Reis A; Brabec V; Sakalova A; Jacobasch G
Blood; 1994 May; 83(10):2817-22. PubMed ID: 8180378
[TBL] [Abstract][Full Text] [Related]
10. Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
Wijk R; van Wesel AC; Thomas AA; Rijksen G; van Solinge WW
Br J Haematol; 2004 Apr; 125(2):253-63. PubMed ID: 15059150
[TBL] [Abstract][Full Text] [Related]
11. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
Baronciani L; Beutler E
J Clin Invest; 1995 Apr; 95(4):1702-9. PubMed ID: 7706479
[TBL] [Abstract][Full Text] [Related]
12. Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R; Koralkova P; Holub D; Zidova Z; Pospisilova D; Cermak J; Striezencova Laluhova Z; Indrak K; Sukova M; Partschova M; Kucerova J; Horvathova M; Divoky V
Br J Haematol; 2014 May; 165(4):556-63. PubMed ID: 24533562
[TBL] [Abstract][Full Text] [Related]
13. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
[TBL] [Abstract][Full Text] [Related]
14. PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.
Rouger H; Girodon E; Goossens M; Galactéros F; Cohen-Solal M
Prenat Diagn; 1996 Feb; 16(2):97-104. PubMed ID: 8650134
[TBL] [Abstract][Full Text] [Related]
15. Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).
Zarza R; Alvarez R; Pujades A; Nomdedeu B; Carrera A; Estella J; Remacha A; Sánchez JM; Morey M; Cortes T; Pérez Lungmus G; Bureo E; Vives Corrons JL
Br J Haematol; 1998 Nov; 103(2):377-82. PubMed ID: 9827908
[TBL] [Abstract][Full Text] [Related]
16. Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.
Klei TRL; Kheradmand Kia S; Veldthuis M; Beuger BM; Geissler J; Dehbozorgian J; Karimi M; van Bruggen R; van Zwieten R
Eur J Haematol; 2017 Jun; 98(6):584-589. PubMed ID: 28295642
[TBL] [Abstract][Full Text] [Related]
17. Mutations in pyruvate kinase.
Beutler E; Baronciani L
Hum Mutat; 1996; 7(1):1-6. PubMed ID: 8664896
[TBL] [Abstract][Full Text] [Related]
18. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.
Kugler W; Willaschek C; Holtz C; Ohlenbusch A; Laspe P; Krügener R; Muirhead H; Schröter W; Lakomek M
Hum Mutat; 2000; 15(3):261-72. PubMed ID: 10679942
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation].
Qu Y; He H; Du J; Hou J; Fu W
Zhonghua Xue Ye Xue Za Zhi; 2014 Jul; 35(7):601-4. PubMed ID: 25052601
[TBL] [Abstract][Full Text] [Related]
20. Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.
van Solinge WW; Kraaijenhagen RJ; Rijksen G; van Wijk R; Stoffer BB; Gajhede M; Nielsen FC
Blood; 1997 Dec; 90(12):4987-95. PubMed ID: 9389718
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
