UGT1A1 Gene Mutation due to Crigler-Najjar Syndrome in Iranian Patients: Identification of a Novel Mutation

Crigler-Najjar syndrome (CNS) type I and type II are inherited as autosomal recessive conditions that are caused by mutations in the UGT1A1 gene. We present the analysis of UGT1A1 gene in 12 individuals from three different families. This analysis allowed us to identify one novel mutation, which was...

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Hlavní autoři: Mohammadi Asl, Javad, Tabatabaiefar, Mohammad Amin, Galehdari, Hamid, Riahi, Kourosh, Masbi, Mohammad Hosein, Zargar Shoshtari, Zohre, Rahim, Fakher
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3826477/
https://ncbi.nlm.nih.gov/pubmed/24286076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/342371
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