Structural mutation of aldolase B in hereditary fructose intolerance: electrofocusing results.
作者信息
Schapira F, Hatzfeld A, Gregori C
出版信息
Monogr Hum Genet. 1978;9:2-6. doi: 10.1159/000401600.
PMID:732841
Abstract
摘要
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Structural mutation of aldolase B in hereditary fructose intolerance: electrofocusing results.遗传性果糖不耐受症中醛缩酶B的结构突变：等电聚焦结果
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Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.由常见错义突变引起的遗传性果糖不耐受中人类醛缩酶B的催化缺陷。
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引用本文的文献
1
Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.成年遗传性果糖不耐受症中突变型肝脏醛缩酶的分离与鉴定。通过放射性测定法在组织活检标本中鉴定酶变体。
J Clin Invest. 1983 Jul;72(1):201-13. doi: 10.1172/jci110958.
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