MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE

Your Location：

Home >

Browse articles >

MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE

中国医学科学杂志（英文版） 1997年0卷第3期页码：156-158

Updated：2024-04-10

- MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE
- Affiliations：
- Author bio：
- Funds：
- DOI：
  中图分类号： R392.2
- 纸质出版日期：1997
- Accepted：
Scan QR Code
MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. 中国医学科学杂志（英文版）, 1997,0(3):156-158.

MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. Chinese medical sciences journal, 1997, 0(3): 156-158.
MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. 中国医学科学杂志（英文版）, 1997,0(3):156-158. DOI：

MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. Chinese medical sciences journal, 1997, 0(3): 156-158. DOI：

摘要

Abstract

Exon 7 of the l’henylalan1ne hydroxylase （PAH） gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla （PKU） from northern Chlna by uslng PCRxsingle strand conformation polymorphism（PCR-SSCP） technique and DNA direct sequencing. Six missense mutatlons （l. e. R2413Q. R 241H

G247V

2 19H

F2541;lnd G257V ）and one silent rnutatlon （V245v ） were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation （R241 H） was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.

关键词

Keywords

references

浏览量

Downloads

CSCD

文章被引用时，请邮件提醒。

Submit

关联资源

TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN

FREQUENT STRUCTURE ALTERATIONS OF p53 GENE IN NASOPHARYNGEAL CARCINOMA

EFFECTS OF MUTATION AND EXPRESSION OF PTEN GENEmRNA ON TUMORIGENESIS AND PROGRESSION OFEPITHELIAL OVARIAN CANCER

Associations Between Epidermal Growth Factor Receptor Gene Mutation and Serum Tumor Markers in Advanced Lung Adenocarcinomas: A Retrospective Study^△

Associations Between Epidermal Growth Factor Receptor Gene Mutation and Serum Tumor Markers in Advanced Lung Adenocarcinomas: A Retrospective Study