PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).
作者信息
Gu X F, Lee J S, Delfau M H, Grandchamp B
机构信息
Laboratoire de Génétique moléculaire, Faculté de Médicine Xavier Bichat, Paris, France.
出版信息
Nucleic Acids Res. 1991 Apr 25;19(8):1966. doi: 10.1093/nar/19.8.1966.
Abstract
摘要
相似文献
1
PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).采用聚合酶链反应（PCR）检测胆色素原脱氨酶基因（PBG-D）第10外显子的G/T多态性。
Nucleic Acids Res. 1991 Apr 25;19(8):1966. doi: 10.1093/nar/19.8.1966.
2
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
Hum Genet. 1993 Dec;92(6):549-53. doi: 10.1007/BF00420937.
3
Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene.人胆色素原脱氨酶基因内含子2和3中的两个新多态性。
Hum Genet. 1993 Sep;92(2):115-6. doi: 10.1007/BF00219676.
4
PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD).采用聚合酶链反应（PCR）检测胆色素原脱氨酶基因（PBGD）第1外显子中的C/T多态性。
Nucleic Acids Res. 1991 Sep 25;19(18):5099. doi: 10.1093/nar/19.18.5099.
5
Detection of a T/C polymorphism in the porphobilinogen deaminase gene by polymerase chain reaction amplification of specific alleles.
Clin Chem. 1992 Oct;38(10):2153-5.
6
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.胆色素原脱氨酶基因第12外显子中的一个点突变G→A导致外显子跳跃，这是急性间歇性卟啉症的病因。
Nucleic Acids Res. 1989 Aug 25;17(16):6637-49. doi: 10.1093/nar/17.16.6637.
7
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.胆色素原脱氨酶基因第10外显子中的两种不同的点G到A突变是急性间歇性卟啉症的病因。
J Clin Invest. 1990 Nov;86(5):1511-6. doi: 10.1172/JCI114869.
8
A MspI polymorphism for the human porphobilinogen deaminase gene.人胆色素原脱氨酶基因的一种MspI多态性
Nucleic Acids Res. 1987 Feb 11;15(3):1349. doi: 10.1093/nar/15.3.1349.
9
A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).人胆色素原脱氨酶基因（PBG）的一种PstI多态性
Nucleic Acids Res. 1987 Aug 11;15(15):6307. doi: 10.1093/nar/15.15.6307.
引用本文的文献
1
Biological and nanotechnological applications using interactions between ionic liquids and nucleic acids.利用离子液体与核酸之间的相互作用的生物和纳米技术应用。
Biophys Rev. 2018 Jun;10(3):931-940. doi: 10.1007/s12551-018-0422-7. Epub 2018 Apr 23.
2
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.急性间歇性卟啉病患者中胆色素原脱氨酶基因第12外显子高突变频率的检测。
Hum Genet. 1993 Dec;92(6):619-22. doi: 10.1007/BF00420949.
3
Molecular genetics of disorders of haem biosynthesis.血红素生物合成障碍的分子遗传学
J Clin Pathol. 1993 Nov;46(11):977-81. doi: 10.1136/jcp.46.11.977.
4
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.卟啉原脱氨酶基因第9和10外显子的移码突变产生急性间歇性卟啉症的交叉反应性免疫物质（CRIM）阴性形式。
Hum Genet. 1994 May;93(5):552-6. doi: 10.1007/BF00202822.
5
Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene.人胆色素原脱氨酶基因内含子2和3中的两个新多态性。
Hum Genet. 1993 Sep;92(2):115-6. doi: 10.1007/BF00219676.
6
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.急性间歇性卟啉症：羟甲基胆色素原合酶基因外显子突变的鉴定与表达。管家转录本中的起始密码子错义突变导致“变异型急性间歇性卟啉症”，而红系特异性酶表达正常。
J Clin Invest. 1994 Nov;94(5):1927-37. doi: 10.1172/JCI117543.
7
Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.异源双链分析可检测急性间歇性卟啉症患者的移码突变和点突变。
Hum Genet. 1995 Aug;96(2):161-6. doi: 10.1007/BF00207373.
8
Porphobilinogen deaminase gene structure and molecular defects.胆色素原脱氨酶基因结构与分子缺陷
J Bioenerg Biomembr. 1995 Apr;27(2):197-205. doi: 10.1007/BF02110034.
9
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.瑞典急性间歇性卟啉病患者中胆色素原脱氨酶基因最常见突变的鉴定。
Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10912-5. doi: 10.1073/pnas.88.23.10912.
本文引用的文献
1
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.胆色素原脱氨酶基因第12外显子中的一个点突变G→A导致外显子跳跃，这是急性间歇性卟啉症的病因。
Nucleic Acids Res. 1989 Aug 25;17(16):6637-49. doi: 10.1093/nar/17.16.6637.
Zotero 插件