Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China

The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDN...

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Bibliographische Detailangaben
Hauptverfasser: Zhou, Yong-An, Ma, Yun-Xia, Zhang, Quan-Bin, Gao, Wei-Hua, Liu, Jian-Ping, Yang, Jian-Ping, Zhang, Gai-Xiu, Zhang, Xiao-Gang, Yu, Liang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade Brasileira de Genética 2012
Schlagworte:
Human and Medical Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3526075/
https://ncbi.nlm.nih.gov/pubmed/23271928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572012005000069
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