Molecular genetics of disorders of haem biosynthesis.
作者信息
Elder G H
机构信息
Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff.
出版信息
J Clin Pathol. 1993 Nov;46(11):977-81. doi: 10.1136/jcp.46.11.977.
Abstract
摘要
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J Clin Pathol. 1993 Nov;46(11):977-81. doi: 10.1136/jcp.46.11.977.
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2
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.由胆色素原脱氨酶辅因子结合裂隙中精氨酸到组氨酸的替换（R26H）引起的急性间歇性卟啉症。
Hum Mol Genet. 1993 Aug;2(8):1315-6. doi: 10.1093/hmg/2.8.1315.
3
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。
Hum Genet. 1993 Mar;91(2):128-30. doi: 10.1007/BF00222712.
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Assignment of the human coproporphyrinogen oxidase to chromosome 9.人粪卟啉原氧化酶定位于9号染色体。
Hum Genet. 1983;64(2):180-3. doi: 10.1007/BF00327121.
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Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.胆色素原脱氨酶的组织特异性表达。来自单一基因的两种同工酶。
Eur J Biochem. 1987 Jan 2;162(1):105-10. doi: 10.1111/j.1432-1033.1987.tb10548.x.
6
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.一例卟啉症患者中的尿卟啉原脱羧酶结构突变体（甘氨酸281→谷氨酸）
Science. 1986 Nov 7;234(4777):732-4. doi: 10.1126/science.3775362.
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Structure of the gene for human uroporphyrinogen decarboxylase.人尿卟啉原脱羧酶基因的结构
Nucleic Acids Res. 1987 Sep 25;15(18):7343-56. doi: 10.1093/nar/15.18.7343.
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Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.人δ-氨基-γ-酮戊酸脱水酶：全长cDNA克隆的核苷酸序列
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Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.人胆色素原脱氨酶基因的可变转录和剪接导致组织特异性表达或组成型表达。
Proc Natl Acad Sci U S A. 1988 Jan;85(1):6-10. doi: 10.1073/pnas.85.1.6.
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Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14.人类14号染色体上的杂合性卟啉病（VP）基因与α-1-抗胰蛋白酶（PI）基因之间的连锁关系。
Hum Genet. 1988 Jul;79(3):289-90. doi: 10.1007/BF00366255.
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