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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia

Type I galactosemia is a genetic disorder that is caused by the impairment of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12). Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known how they cause thei...

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書誌詳細
主要な著者: McCorvie, Thomas J, Gleason, Tyler J, Fridovich-Keil, Judith L, Timson, David J
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3679265/
https://ncbi.nlm.nih.gov/pubmed/23583749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.04.004
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