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Items: 1 to 20 of 136

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.

PMID:
8616073
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 15;83(10):2817-22.

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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.

PMID:
9827908
5.

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 1;89(5):1793-9.

6.

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.

PMID:
7948315
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 15;84(10):3505-9.

8.

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. doi: 10.1002/humu.20915.

PMID:
19085939
9.

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. Erratum in: Br J Haematol 2002 Oct;119(1):289.

PMID:
10354118
10.

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 15;89(10):3847-52.

11.

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.

PMID:
10354117
12.

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 1;89(11):4213-8.

13.

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.

PMID:
11328279
15.

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. doi: 10.1111/j.1399-0004.2008.01079.x. Epub 2008 Aug 28.

PMID:
18759866
16.

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. Erratum in: Br J Haematol. 2005 Sep;130(6):973.

PMID:
15953013
17.
18.

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Costa C, Albuisson J, Le TH, Max-Audit I, Dinh KT, Tosi M, Goossens M, Pissard S.

Haematologica. 2005 Jan;90(1):25-30.

19.

Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W.

Blood. 1991 May 1;77(9):1871-5.

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