Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause PKU in various ethnic groups, and large deletions or duplications account for up to 3% of the PAH...

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Hauptverfasser: Lee, Yong-Wha, Lee, Dong Hwan, Kim, Nam-Doo, Lee, Seung-Tae, Ahn, Jee Young, Choi, Tae-Youn, Lee, You Kyoung, Kim, Sun-Hee, Kim, Jong-Won, Ki, Chang-Seok
Format: Artigo
Sprache:Inglês
Veröffentlicht: Korean Society of Medical Biochemistry and Molecular Biology 2008
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2679362/
https://ncbi.nlm.nih.gov/pubmed/18985011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2008.40.5.533
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