一名原卟啉症患者中铁螯合酶基因的缺失。 - Suppr

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超能文献

Deletion of the ferrochelatase gene in a patient with protoporphyria.

作者信息

Magness S T, Tugores A, Christensen S R, Wagner-Mcpherson C, Evans G A, Naylor E W, Brenner D A

机构信息

Department of Medicine, University of North Carolina, Chapel Hill.

出版信息

Hum Mol Genet. 1994 Sep;3(9):1695-7. doi: 10.1093/hmg/3.9.1695.

DOI:10.1093/hmg/3.9.1695

PMID:7833934

Abstract

摘要

相似文献

Deletion of the ferrochelatase gene in a patient with protoporphyria.一名原卟啉症患者中铁螯合酶基因的缺失。

Hum Mol Genet. 1994 Sep;3(9):1695-7. doi: 10.1093/hmg/3.9.1695.

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.人类亚铁螯合酶基因（FECH）的定位以及原卟啉症基因座定位于18号染色体q22区。

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A molecular defect in human protoporphyria.人类原卟啉症中的分子缺陷。

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Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria.亚铁螯合酶蛋白的免疫化学研究：牛和人原卟啉症中正常和突变蛋白的特性

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Targeted disruption of the mouse ferrochelatase gene producing an exon 10 deletion.靶向破坏小鼠亚铁螯合酶基因导致外显子10缺失。

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Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.家鼠中的红细胞生成性原卟啉症。一种隐性遗传的亚铁螯合酶缺乏症，伴有贫血、光敏性和肝脏疾病。

J Clin Invest. 1991 Nov;88(5):1730-6. doi: 10.1172/JCI115491.

Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.红系细胞18号染色体长臂缺失导致的迟发性红细胞生成性卟啉病。

J Invest Dermatol. 2001 Dec;117(6):1647-9. doi: 10.1046/j.0022-202x.2001.01560.x.

[Erythropoietic protoporphyria].[红细胞生成性原卟啉病]

Fortschr Med. 1979 Oct 4;97(37):1625-30.

Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.因骨髓发育异常导致18号染色体缺失而引发的获得性红细胞生成性原卟啉症。

Br J Dermatol. 2006 Aug;155(2):464-6. doi: 10.1111/j.1365-2133.2006.07318.x.

Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.卟啉症研究：红细胞生成性原卟啉症患者经丝裂原刺激的淋巴细胞中铁螯合酶活性部分缺乏的功能证据。

J Clin Invest. 1982 Apr;69(4):809-15. doi: 10.1172/jci110520.

引用本文的文献

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.当诊断写在DNA中：一名患有18号染色体缺失的红细胞生成性原卟啉症患者的病例

Dermatol Reports. 2023 Sep 13;16(2):9784. doi: 10.4081/dr.2023.9784. eCollection 2024 Jun 14.

Laboratory Diagnosis of Porphyria.卟啉病的实验室诊断

Diagnostics (Basel). 2021 Jul 26;11(8):1343. doi: 10.3390/diagnostics11081343.

Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.西奥多·伍德沃德奖。原卟啉症生化异常的发病机制。

Trans Am Clin Climatol Assoc. 2000;111:245-56; discussion 256-7.

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.需要进行肝移植的原卟啉症患者中铁螯合酶的分子缺陷。

J Clin Invest. 1998 Jul 1;102(1):107-14. doi: 10.1172/JCI1347.

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.对红细胞生成性原卟啉症患者铁螯合酶基因分子缺陷的系统分析。

Am J Hum Genet. 1998 Jun;62(6):1341-52. doi: 10.1086/301870.

Erythropoietic protoporphyria.红细胞生成性原卟啉病

J Inherit Metab Dis. 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985.

The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.18q-综合征：通过双变量流式核型分析和聚合酶链反应对染色体进行分析，揭示了18q21.2 - q22.2区域内一系列连续的缺失断点。

Am J Hum Genet. 1995 Apr;56(4):926-37.

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