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Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Phosphofructokinase (PFK) catalyzes the rate-limiting step of glycolysis. Deficiency of the muscle enzyme is manifested by exercise intolerance and a compensated hemolytic anemia. Case reports of this autosomal recessive disease suggest a predominance in Ashkenazi Jews in the United States. We have...

詳細記述

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書誌詳細
主要な著者: Sherman, J. B., Raben, N., Nicastri, C., Argov, Z., Nakajima, H., Adams, E. M., Eng, C. M., Cowan, T. M., Plotz, P. H.
フォーマット: Artigo
言語:Inglês
出版事項: 1994
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918380/
https://ncbi.nlm.nih.gov/pubmed/8037209
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