114 related articles for article (PubMed ID: 8616073)
1. Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France.
Rouger H; Valentin C; Craescu CT; Galactéros F; Cohen-Solal M
Br J Haematol; 1996 Mar; 92(4):825-30. PubMed ID: 8616073
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.
Lenzner C; Nürnberg P; Jacobasch G; Gerth C; Thiele BJ
Blood; 1997 Mar; 89(5):1793-9. PubMed ID: 9057665
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.
Kugler W; Laspe P; Stahl M; Schröter W; Lakomek M
Br J Haematol; 1999 Jun; 105(3):596-8. PubMed ID: 10354118
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.
Lakomek M; Huppke P; Neubauer B; Pekrun A; Winkler H; Schröter W
Ann Hematol; 1994 Nov; 69(5):253-60. PubMed ID: 7948315
[TBL] [Abstract][Full Text] [Related]
9. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.
Gultekin GI; Raj K; Foureman P; Lehman S; Manhart K; Abdulmalik O; Giger U
J Vet Intern Med; 2012; 26(4):935-44. PubMed ID: 22805166
[TBL] [Abstract][Full Text] [Related]
10. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
van Wijk R; Huizinga EG; van Wesel AC; van Oirschot BA; Hadders MA; van Solinge WW
Hum Mutat; 2009 Mar; 30(3):446-53. PubMed ID: 19085939
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M; Manco L; Kalai M; Chaouch L; Douzi K; Silva A; Macedo S; Darragi I; Boudriga I; Chaouachi D; Fitouri Z; Van Wijk R; Ribeiro ML; Abbes S
Int J Lab Hematol; 2017 Apr; 39(2):223-231. PubMed ID: 28133914
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
Kedar P; Hamada T; Warang P; Nadkarni A; Shimizu K; Fujji H; Ghosh K; Kanno H; Colah R
Clin Genet; 2009 Feb; 75(2):157-62. PubMed ID: 18759866
[TBL] [Abstract][Full Text] [Related]
17. PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.
Manco L; Ribeiro ML; Almeida H; Freitas O; Abade A; Tamagnini G
Br J Haematol; 1999 Jun; 105(3):591-5. PubMed ID: 10354117
[TBL] [Abstract][Full Text] [Related]
18. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
Fermo E; Bianchi P; Chiarelli LR; Cotton F; Vercellati C; Writzl K; Baker K; Hann I; Rodwell R; Valentini G; Zanella A
Br J Haematol; 2005 Jun; 129(6):839-46. PubMed ID: 15953013
[TBL] [Abstract][Full Text] [Related]
19. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.
Beutler E; Gelbart T
Blood; 2000 Jun; 95(11):3585-8. PubMed ID: 10828047
[TBL] [Abstract][Full Text] [Related]
20. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
Baronciani L; Beutler E
Proc Natl Acad Sci U S A; 1993 May; 90(9):4324-7. PubMed ID: 8483951
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]