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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.
Nakajima H, Kono N, Yamasaki T, Hotta K, Kawachi M, Kuwajima M, Noguchi T, Tanaka T, Tarui S. Nakajima H, et al. Among authors: tarui s. J Biol Chem. 1990 Jun 5;265(16):9392-5. J Biol Chem. 1990. PMID: 2140573 Free article.
The genetic defect in muscle phosphofructokinase deficiency (type VII glycogenosis, Tarui disease) was investigated. Six cDNAs for muscle phosphofructokinase, including a full-length clone, were isolated from a non-amplified library of muscle from a patient. ...The deletio …
The genetic defect in muscle phosphofructokinase deficiency (type VII glycogenosis, Tarui disease) was investigated. Six cDNAs for mu …
Cloning of human muscle phosphofructokinase cDNA.
Nakajima H, Noguchi T, Yamasaki T, Kono N, Tanaka T, Tarui S. Nakajima H, et al. Among authors: tarui s. FEBS Lett. 1987 Oct 19;223(1):113-6. doi: 10.1016/0014-5793(87)80519-7. FEBS Lett. 1987. PMID: 2822475 Free article.
561 results