| 1 | GSD7, PFKM
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| Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.
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| García M, Pujol A, Ruzo A, Riu E, Ruberte J, Arbós A, Serafín A, Albella B, Felíu JE, Bosch F.
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| PLoS Genet 5(8):e1000615. Epub 2009 Aug 21.PMID: 19696889 2009
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| 2 | GSD7, PFKM
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| Late-onset muscle weakness in partial phosphofructokinase deficiency : a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
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| Sivakumar K, et al.
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| Neurology 46 : 1337-1342. 1996
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| 3 | GSD7, PFKM
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| Glycogenosis type VII (Tarui disease) in a Swedish family : two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
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| Nichols RC, et al.
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| Am J Hum Genet 59 : 59-65. 1996
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| 4 | GSD7, PFKM
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| Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
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| Hamaguchi T, et al.
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| Hum Mutat 8 : 273-275. 1996
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| 5 | GSD7, PFKM
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| Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
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| Vasconcelos O, et al.
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| Proc Natl Acad Sci U S A 92 : 10322-10326. 1995
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| 6 | GSD7, PFKM
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| Mutations in muscle phosphofructokinase gene.
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| Raben N, et al.
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| Hum Mutat 6 : 1-6. 1995
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| 7 | GSD7, PFKM
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| Functional expression of human mutant phosphofructokinase in yeast : genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
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| Raben N, et al.
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| Am J Hum Genet 56 : 131-141. 1995
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| 8 | GSD7, PFKM
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| Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
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| Tsujino S, et al.
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| Am J Hum Genet 54 : 812-819. 1994
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| 9 | GSD7, PFKM
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| Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII-and their population frequency.
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| Sherman JB, et al.
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| Am J Hum Genet 55 : 305-313. 1994
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| 10 | GSD7, PFKM
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| A 5' splice junction mutation leading to exon deletion in an ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
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| Raben N, et al.
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| J Biol Chem 268 : 4963-4967. 1993
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| 11 | GSD7, PFKM
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| Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.
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| Nakajima H, et al.
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| J Biol Chem 265 : 9392-9395. 1990
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| 12 | GSD7, PFKM
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| Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
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| Vora S, et al.
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| J Clin Invest 72 : 1995-2006. 1983
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| 13 | GSD7
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| Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody.
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| Vora S, Durham S, de Martinville B, George DL, Francke U.
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| Somatic Cell Genet 8 : 95-104. 1982
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| 14 | GSD7, PFKM
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| Phosphofructokinase deficiency in skeletal muscle : a new type of glycogenosis.
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| Tarui S, et al.
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| Biochem Biophys Res Commun 19 : 517-523. 1965
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