Genetic history of phenylketonuria mutations in Italy.
作者信息
Dianzani I, Giannattasio S, de Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A
出版信息
Am J Hum Genet. 1994 Oct;55(4):851-3.
Abstract
摘要
相似文献
1
Genetic history of phenylketonuria mutations in Italy.意大利苯丙酮尿症突变的遗传史。
Am J Hum Genet. 1994 Oct;55(4):851-3.
2
Phenylketonuria and the peoples of Northern Ireland.苯丙酮尿症与北爱尔兰人民
Hum Genet. 1997 Aug;100(2):189-94. doi: 10.1007/s004390050488.
3
2001 ASHG Award for Excellence in Education. ... And know the place for the first time.2001年美国人类遗传学会卓越教育奖。…… 初次了解这个地方。
Am J Hum Genet. 2002 Feb;70(2):317-23. doi: 10.1086/338918. Epub 2002 Jan 4.
4
Asbjørn Følling, his life and work.阿斯比约恩·弗林，他的生平与著作。
Prog Clin Biol Res. 1985;177:79-92.
5
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Am J Hum Genet. 1994 Aug;55(2):321-6.
6
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.意大利苯丙氨酸羟化酶基因座的单倍型分布及分子缺陷
Hum Genet. 1990 Nov;86(1):69-72. doi: 10.1007/BF00205176.
7
Phenylketonuria. Population genetics of a disease.苯丙酮尿症。一种疾病的群体遗传学。
Nature. 1987;327(6120):282-3. doi: 10.1038/327282a0.
8
Geographical distribution gradients of the major PKU mutations and the linked haplotypes.主要苯丙酮尿症突变及连锁单倍型的地理分布梯度。
Hum Genet. 1991 Feb;86(4):411-3. doi: 10.1007/BF00201847.
9
Phenylketonuria mutations in Europe.欧洲的苯丙酮尿症突变
Hum Mutat. 2003 Apr;21(4):345-56. doi: 10.1002/humu.10192.
10
DHPLC mutation analysis of phenylketonuria.苯丙酮尿症的变性高效液相色谱突变分析
Mol Genet Metab. 2003 Mar;78(3):205-10. doi: 10.1016/s1096-7192(02)00228-7.
引用本文的文献
1
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.伊朗 1547 例苯丙酮尿症患者的 PAH 基因突变谱：一项全面的系统评价。
Metab Brain Dis. 2021 Jun;36(5):767-780. doi: 10.1007/s11011-021-00698-4. Epub 2021 Feb 24.
2
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.突尼斯家庭中三种地中海型苯丙酮尿症突变的筛查
J Genet. 2012;91(1):91-4. doi: 10.1007/s12041-012-0140-z.
3
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.捷克共和国经典苯丙酮尿症患者苯丙氨酸羟化酶等位基因的突变与单倍型分析：鉴定出四个新突变
J Med Genet. 1997 Nov;34(11):893-8. doi: 10.1136/jmg.34.11.893.
4
Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?英国的苯丙酮尿症：基因分析提供了该疾病的历史视角，但它能预测受影响个体的未来吗？
Mol Pathol. 1997 Aug;50(4):169-74. doi: 10.1136/mp.50.4.169.
5
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.意大利的苯丙酮尿症：苯丙氨酸羟化酶基因三种突变的独特分布模式
J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604.
6
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.意大利血色素沉着症患者中HLA-H基因的突变分析。
Am J Hum Genet. 1997 Apr;60(4):828-32.
7
Sequence variation at the phenylalanine hydroxylase gene in the British Isles.不列颠群岛苯丙氨酸羟化酶基因的序列变异
Am J Hum Genet. 1997 Feb;60(2):388-96.
8
Allelic association of microsatellites of 6p in Italian hemochromatosis patients.意大利血色素沉着症患者6号染色体短臂微卫星的等位基因关联
Hum Genet. 1996 Apr;97(4):476-81. doi: 10.1007/BF02267070.
9
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.一个家族中苯丙酮尿症的不一致表型：基因型与临床结果之间的关系是多种效应的函数。
J Med Genet. 1995 Nov;32(11):867-70. doi: 10.1136/jmg.32.11.867.
10
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.捷克苯丙酮尿症（PKU）家系中苯丙酮尿症突变及其与PAH基因座RFLP单倍型的关系。
Hum Genet. 1995 Oct;96(4):472-6. doi: 10.1007/BF00191809.
本文引用的文献
1
Who are the Europeans?欧洲人都有谁？
Science. 1993 Jun 18;260(5115):1767-9. doi: 10.1126/science.8511584.
2
Demic expansions and human evolution.人口扩张与人类进化。
Science. 1993 Jan 29;259(5095):639-46. doi: 10.1126/science.8430313.
3
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.
4
A genetic history of Italy.意大利的遗传史。
Ann Hum Genet. 1988 Jul;52(3):203-13. doi: 10.1111/j.1469-1809.1988.tb01098.x.
5
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.天然和扩增产生的限制性酶切位点在苯丙酮尿症突变诊断中的应用。
Nucleic Acids Res. 1991 Apr 11;19(7):1427-30. doi: 10.1093/nar/19.7.1427.
6
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.苯丙酮尿症基因座：不同人群中苯丙氨酸羟化酶基因的等位基因和突变的现有知识。
Hum Genet. 1991 Aug;87(4):377-88. doi: 10.1007/BF00197152.
7
8
Multiple origins for phenylketonuria in Europe.欧洲苯丙酮尿症的多种起源。
Am J Hum Genet. 1992 Dec;51(6):1355-65.
9
The spectrum of cystic fibrosis mutations.囊性纤维化突变谱。
Trends Genet. 1992 Nov;8(11):392-8. doi: 10.1016/0168-9525(92)90301-j.
Zotero 插件