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Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.

作者信息

Zygulska M, Eigel A, Pietrzyk J J, Horst J

机构信息

Department of Medical Genetics, Institute of Pediatrics, Medical Academy, Krakow, Poland.

出版信息

Hum Mutat. 1993;2(3):238-9. doi: 10.1002/humu.1380020314.

DOI:10.1002/humu.1380020314
PMID:8364593
Abstract
摘要

相似文献

1
Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Hum Mutat. 1993;2(3):238-9. doi: 10.1002/humu.1380020314.
2
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
Hum Mutat. 1992;1(2):154-8. doi: 10.1002/humu.1380010211.
3
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.巴勒斯坦阿拉伯人群中苯丙酮尿症和良性高苯丙氨酸血症患者苯丙氨酸羟化酶基因的剪接位点缺陷
Hum Mutat. 1992;1(4):340-3. doi: 10.1002/humu.1380010413.
4
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
Hum Mutat. 1993;2(1):74-6. doi: 10.1002/humu.1380020114.
5
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Hum Mutat. 1994;4(3):229-31. doi: 10.1002/humu.1380040311.
6
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507.
7
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].[经典苯丙酮尿症苯丙氨酸羟化酶基因新突变的鉴定]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):134-7.
8
[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
Bioorg Khim. 1989 Dec;15(12):1690-2.
9
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].[甘肃省苯丙酮尿症患者苯丙氨酸羟化酶基因的突变分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):419-22.
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[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):142-6. doi: 10.3760/cma.j.issn.1003-9406.2011.02.005.

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Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.威斯康星阿米什人中苯丙氨酸羟化酶缺乏症患者的基因型
Mol Genet Metab Rep. 2018 Mar 8;15:75-77. doi: 10.1016/j.ymgmr.2018.02.005. eCollection 2018 Jun.
2
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.