Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.
作者信息
Boyadjiev S A, Sahota A, Tischfield J A
机构信息
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
出版信息
Hum Mutat. 1996;8(3):214-5. doi: 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9.
Abstract
摘要
相似文献
1
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.人腺嘌呤磷酸核糖转移酶基因侧翼多态性的鉴定与应用
Hum Mutat. 1996;8(3):214-5. doi: 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9.
2
Identification of polymorphic markers flanking the human APRT gene.人腺嘌呤磷酸核糖转移酶（APRT）基因侧翼多态性标记的鉴定。
Adv Exp Med Biol. 1994;370:657-60. doi: 10.1007/978-1-4615-2584-4_136.
3
Analysis of APRT mutations by reverse-transcription PCR.通过逆转录聚合酶链反应分析腺嘌呤磷酸核糖转移酶（APRT）突变
Adv Exp Med Biol. 1994;370:671-4. doi: 10.1007/978-1-4615-2584-4_139.
4
A Saccharomyces cerevisiae gene encoding a potential adenine phosphoribosyltransferase.一个编码潜在腺嘌呤磷酸核糖转移酶的酿酒酵母基因。
Yeast. 1994 May;10(5):659-62. doi: 10.1002/yea.320100510.
5
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.一名腺嘌呤磷酸核糖转移酶缺乏症患者中，一个等位基因发生错义突变，另一个等位基因发生7个碱基对的缺失。
Hum Mutat. 1994;3(3):315-7. doi: 10.1002/humu.1380030324.
6
Adenine phosphoribosyl transferase polymorphism in baboons.
Biochem Genet. 1992 Aug;30(7-8):331-7. doi: 10.1007/BF00569323.
7
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.一名腺嘌呤磷酸核糖转移酶缺乏症患者的母源16号染色体单亲二倍体。
Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x.
8
9
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.人腺嘌呤磷酸核糖转移酶。核苷酸水平上等位基因突变作为该酶完全缺乏的原因的鉴定。
J Clin Invest. 1987 Nov;80(5):1409-15. doi: 10.1172/JCI113219.
10
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.2,8-二羟基腺嘌呤尿路结石患者腺嘌呤磷酸核糖转移酶基因两个新突变的鉴定
Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1141-5. doi: 10.1081/NCN-200027393.
引用本文的文献
1
Drosophila double parked: a conserved, essential replication protein that colocalizes with the origin recognition complex and links DNA replication with mitosis and the down-regulation of S phase transcripts.果蝇双停泊蛋白：一种保守的必需复制蛋白，与起始识别复合物共定位，并将DNA复制与有丝分裂及S期转录本的下调联系起来。
Genes Dev. 2000 Jul 15;14(14):1765-76.
Zotero 插件