A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
作者信息
Kleiman S, Schwartz G, Woo S L, Shiloh Y
机构信息
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
出版信息
Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414.
PMID:1301943
Abstract
摘要
相似文献
1
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414.
2
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.
3
[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.
4
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.
5
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.人类苯丙氨酸羟化酶基因新型肝脏特异性增强子的鉴定与表征
Hum Genet. 2002 Mar;110(3):235-43. doi: 10.1007/s00439-002-0677-7. Epub 2002 Feb 5.
6
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
Hum Mol Genet. 1992 Dec;1(9):763-4. doi: 10.1093/hmg/1.9.763.
7
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Hum Mutat. 1994;4(3):229-31. doi: 10.1002/humu.1380040311.
8
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。
Hum Mol Genet. 1993 May;2(5):605-6. doi: 10.1093/hmg/2.5.605.
9
Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.通过多重连接依赖探针扩增（MLPA）分析鉴定导致苯丙酮尿症的PAH基因外显子缺失。
Clin Chim Acta. 2006 Nov;373(1-2):164-7. doi: 10.1016/j.cca.2006.05.003. Epub 2006 May 12.
10
[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.
Zotero 插件