ロード中...
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...
保存先:
主要な著者: | , , , , , , , , |
---|---|
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 |
タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|