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水貂(鼬属水貂)遗传性酪氨酸血症综合征。

A syndrome of hereditary tyrosinemia in mink (Mustela vison Schreb.).

作者信息

Christensen K, Fischer P, Knudsen K E, Larsen S, Sørensen H, Venge O

出版信息

Can J Comp Med. 1979 Jul;43(3):333-40.

Abstract

A hereditary disease in mink (Mustela vison Schreb.) leading to death when the affected kits are about six weeks old has been investigated. The disorder is inherited as a simple autosomal recessive character. Strongly elevated plasma tyrosine concentration is an outstanding feature of the disease. An enzyme defect in tyrosine aminotransferase (EC 2.6.1.5) or 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) is considered together with the possibility of a parallel between the disease in mink and the disease tyrosinosis or hereditary tyrosinemia in man.

摘要

对水貂(鼬属水貂Schreb.)中一种遗传性疾病进行了研究,患病幼崽在约六周大时会死亡。该病症作为一种简单的常染色体隐性性状遗传。血浆酪氨酸浓度大幅升高是该疾病的一个突出特征。酪氨酸转氨酶(EC 2.6.1.5)或4-羟基苯丙酮酸双加氧酶(EC 1.13.11.27)的酶缺陷被考虑在内,同时还考虑了水貂疾病与人类酪氨酸病或遗传性酪氨酸血症之间存在相似性的可能性。

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引用本文的文献

1
Tyrosine aminotransferase deficiency in mink (Mustela vision): a model for human tyrosinemia II.
Biochem Genet. 1981 Aug;19(7-8):687-93. doi: 10.1007/BF00484001.

本文引用的文献

1
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