1 | TPI1, TPI1D
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| Triosephosphate isomerase deficiency: facts and doubts.
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| Orosz F, Oláh J, Ovádi J.
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| IUBMB Life 58(12):703-15. Review.PMID: 17424909 [PubMed - indexed for MEDLINE] 2006
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2 | TPI1, TPI1D
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| Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
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| Oláh J, Orosz F, Puskás LG, Hackler L Jr, Horányi M, Polgár L, Hollán S, Ovádi J.
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| Biochem J 392(Pt 3):675-83.
2005
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3 | TPI1, TPI1D
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| Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes.
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| Valentin C, Cohen-Solal M, Maquat L, Horanyi M, Inselt-Kovacs M, Hollan S.
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| C R Acad Sci III 323(3):245-50. 2000
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4 | TPI1, TPI1D
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| Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
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| Arya R, Lalloz MR, Bellingham AJ, Layton DM.
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| Hum Mutat 10(4):290-4. 1997
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5 | TPI1, TPI1D
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| Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
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| Watanabe M, et al.
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| Am J Hum Genet 58 : 308-316. 1996
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6 | TPI1, TPI1D
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| Triosephosphate isomerase deficiency : repetitive occurence of point mutation in amino acid 104 in multiple apparently unrelated families.
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| Schneider A, et al.
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| Am J Hematol 50 : 263-268. 1995
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7 | TPI1, TPI1D
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| Hereditary hemolytic anemia with triosephosphate isomerase deficiency.
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| Schneider AS, et al.
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| N Engl J Med 272 : 229-235. 1965
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