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A rare electrophoretic enzyme variant of serum alkaline phosphatase in a group of Icelanders.

作者信息

Hosenfeld D, Lehmann W, Pálsson J, Frants R

出版信息

Hum Hered. 1979;29(5):298-305. doi: 10.1159/000153061.

DOI:10.1159/000153061
PMID:489030
Abstract

An electrophoretic isoenzyme variant of serum alkaline phosphatase was found in 10 out of 343 subjects belonging to an Icelandic population in Husavik and the Husavik region. 9 of the variant-positive subjects were women. The enzyme variant differs from normal isoenzymes in electrophoretic mobility, substrate specificity, and response to inhibitors. It could be demonstrated that nine of the subjects with the enzyme variant were related with each other.

摘要

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Benign familial hyperphosphatasaemia as a cause of unexplained increase in plasma alkaline phosphatase activity.良性家族性高磷酸酶血症作为血浆碱性磷酸酶活性不明原因升高的一个原因。
J Clin Pathol. 1993 Aug;46(8):738-41. doi: 10.1136/jcp.46.8.738.