Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum

Mutations in the gene encoding bilirubin UDP-glucuronosyltransferase (UGT1A1) are known to cause Crigler–Najjar syndrome type II (CN-II). We previously encountered a patient with a nonsense mutation (Q331X) on one allele and with no other mutations in the promoter region or other exons, and proposed...

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Detalles Bibliográficos
Autores principales: Suzuki, Masahiro, Hirata, Marie, Takagi, Miho, Watanabe, Taiichi, Iguchi, Tomohiro, Koiwai, Kotaro, Maezawa, So, Koiwai, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973126/
https://www.ncbi.nlm.nih.gov/pubmed/24401909
http://dx.doi.org/10.1038/jhg.2013.138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973126/
https://www.ncbi.nlm.nih.gov/pubmed/24401909
http://dx.doi.org/10.1038/jhg.2013.138

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