日本患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的分子分析 - Suppr

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超能文献

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients.

作者信息

Fujimori S, Tagaya T, Yamaoka N, Kamatani N, Akaoka I

机构信息

Second Department of Internal Medicine, University of Teikyo, Tokyo, Japan.

出版信息

Adv Exp Med Biol. 1991;309B:101-4. doi: 10.1007/978-1-4615-7703-4_22.

DOI:10.1007/978-1-4615-7703-4_22

PMID:1781350

Abstract

摘要

相似文献

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients.日本患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的分子分析

Adv Exp Med Biol. 1991;309B:101-4. doi: 10.1007/978-1-4615-7703-4_22.

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.法国家族中次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶缺乏症的分子基础；两个新突变的报告。

Hum Mutat. 1998;Suppl 1:S88-90. doi: 10.1002/humu.1380110130.

Identification of two independent Japanese mutant HPRT genes using the PCR technique.利用聚合酶链式反应（PCR）技术鉴定两个独立的日本突变型次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）基因。

Adv Exp Med Biol. 1991;309B:121-4. doi: 10.1007/978-1-4615-7703-4_27.

Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome.莱施-奈恩综合征中次黄嘌呤磷酸核糖基转移酶基因缺失的分子描述。

Hum Mol Genet. 1994 Jan;3(1):199-200. doi: 10.1093/hmg/3.1.199.

Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.对日本莱施-奈恩综合征患者的次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因分析

Acta Paediatr Jpn. 1996 Feb;38(1):36-40. doi: 10.1111/j.1442-200x.1996.tb03432.x.

A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.莱施-奈恩综合征患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）假定的5-磷酸核糖-1-焦磷酸结合位点编码序列内的种系突变：功能重要区域内的错义突变可能导致疾病。

Hum Genet. 1992 Dec;90(4):385-8. doi: 10.1007/BF00220464.

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症：日本莱施 - 奈恩综合征和遗传性痛风患者点突变的鉴定及其在HPRT缺陷小鼠细胞系中的永久表达。

Hum Genet. 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606.

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.次黄嘌呤磷酸核糖基转移酶缺乏症中的遗传和临床异质性。

Adv Exp Med Biol. 1994;370:331-5. doi: 10.1007/978-1-4615-2584-4_71.

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）缺陷的分子分析：新突变及日本突变谱

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4. doi: 10.1080/15257770802135869.

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症：首次在日本人中鉴定出导致莱施-奈恩综合征的核苷酸替代。

Hum Genet. 1990 Apr;84(5):483-6. doi: 10.1007/BF00195826.

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