急性间歇性卟啉病中胆色素原脱氨酶基因的两种新突变 - Suppr

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超能文献

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

作者信息

Gu X F, de Rooij F, de Baar E, Bruyland M, Lissens W, Nordmann Y, Grandchamp B

机构信息

Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.

出版信息

Hum Mol Genet. 1993 Oct;2(10):1735-6. doi: 10.1093/hmg/2.10.1735.

DOI:10.1093/hmg/2.10.1735

PMID:8268934

Abstract

摘要

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Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.急性间歇性卟啉病中胆色素原脱氨酶基因的两种新突变

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Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.通过对体外扩增的cDNA进行直接测序，检测急性间歇性卟啉病患者胆色素原脱氨酶基因中的七个点突变。

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High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.荷兰急性间歇性卟啉症患者中胆色素原脱氨酶基因突变的高发生率。

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Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.急性间歇性卟啉病——羟甲基胆色素原合酶基因突变对生化及酶蛋白特性的影响

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J Inherit Metab Dis. 2004;27(5):625-31. doi: 10.1023/b:boli.0000042936.20691.ad.

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J Clin Lab Anal. 2002;16(5):259-65. doi: 10.1002/jcla.10053.

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).导致急性间歇性卟啉症（AIP）的羟甲基胆色素原合酶基因突变的鉴定与表达

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