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Molecular basis of mild hyperphenylalaninaemia in Turkey.

作者信息

Yilmaz E, Cali F, Roman V, Ozalp I, Coşkun T, Tokatli A, Kalkanoğlu H S, Ozgüç M

机构信息

Hacettepe University, Faculty of Medicine Department of Medical Biology, Ankara, Turkey.

出版信息

J Inherit Metab Dis. 2000 Jul;23(5):523-5. doi: 10.1023/a:1005628717813.

DOI:10.1023/a:1005628717813
PMID:10947211
Abstract
摘要

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Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.希腊苯丙酮尿症(PKU)和高苯丙氨酸血症(HPA)患者苯丙氨酸羟化酶基因的初步突变分析。
Hum Genet. 1994 Nov;94(5):573-5. doi: 10.1007/BF00211031.
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Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.苯丙酮尿症杂合子个体中携带严重和中度突变的阿斯巴甜负荷试验。
Clin Genet. 2000 Jul;58(1):86-8. doi: 10.1034/j.1399-0004.2000.580118.x.
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Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU.苯丙酮尿症疾病中苯丙氨酸羟化酶基因型与诊断及治疗表型参数之间的关系。德国苯丙酮尿症协作研究。
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Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.苯丙氨酸羟化酶缺乏症表型不一致家庭的突变分析。高苯丙氨酸血症的遗传与表达。
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Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.在一个患有苯丙酮尿症的巴勒斯坦家族中,一种错义突变R270S导致苯丙氨酸羟化酶失活。
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Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

本文引用的文献

1
Phenylketonuria mutations in Germany.德国的苯丙酮尿症突变
Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973.
2
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.一项关于苯丙氨酸羟化酶缺乏症的欧洲多中心研究:105种突变的分类及基于基因型预测代谢表型的通用系统
Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920.
3
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
635 例近亲婚配苯丙酮尿症患者的分子遗传学研究。
J Inherit Metab Dis. 2018 Nov;41(6):1159-1167. doi: 10.1007/s10545-018-0228-6. Epub 2018 Aug 29.
4
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.中国二氢蝶啶还原酶缺乏症患者的QDPR基因突变与临床随访
World J Pediatr. 2014 Aug;10(3):219-26. doi: 10.1007/s12519-014-0496-7. Epub 2014 Aug 15.
5
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.伊朗西部苯丙酮尿症患者苯丙氨酸羟化酶(PAH)基因突变分析及其与多态性的关联:鉴定出四个新突变
Metab Brain Dis. 2014 Mar;29(1):131-8. doi: 10.1007/s11011-013-9432-0. Epub 2013 Sep 19.
6
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).利用变性梯度凝胶电泳(DGGE)对16个患有二氢吡啶受体(DHPR)缺乏症的土耳其家庭进行分子分析。
Hum Genet. 2000 Dec;107(6):546-53. doi: 10.1007/s004390000407.
意大利的苯丙酮尿症缺乏症:西西里人群中基因型与表型的相关性
J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343.
4
Mutation analysis in Turkish phenylketonuria patients.土耳其苯丙酮尿症患者的突变分析
J Med Genet. 1993 Feb;30(2):129-30. doi: 10.1136/jmg.30.2.129.
5
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.西西里岛苯丙氨酸羟化酶缺乏症的突变谱:对欧洲南部高苯丙氨酸血症诊断的意义。
Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.