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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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: Sociedade Brasileira de Genética 2012
Assuntos:
Human and Medical Genetics
Acesso em linha: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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