Article
Mutational spectrum of phenylketonuria in Jiangsu province.
European journal of pediatrics - 1 Oct 2015
Chen Ya-fen, Jia Hai-tao, Chen Zhong-hai, Song Jia-ping, Liang Yu, Pei Jing-jing, Wu Zhi-jun, Wang Jing, Qiu Ya-li, Liu Gang, Sun Dong-mei, Jiang Xin-ye
Abstract excerpt
UNLABELLED: Phenylketonuria (PKU) is caused by variants in the phenylalanine hydroxylase (PAH) gene. We systematically investigated all 13 exons of the PAH gene and their flanking introns in 31 unrelated patients and their parents using next-generation sequencing (NGS). A total of 33 different variants were identified in 58 of 62 mutant PAH alleles. The prevalent variants with a relative frequency of 5 % or more...
Topics
- Alleles
- China
- DNA
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genotype
- Humans
- Infant, Newborn
- Male
- Mutation