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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Sociedade Brasileira de Genética 2012
Materias:
Human and Medical Genetics
Acceso en línea: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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