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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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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3973126/ https://ncbi.nlm.nih.gov/pubmed/24401909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2013.138 |
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