The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim

Expanded access to DNA sequencing now fosters ready detection of site-specific human genome alterations whose actual significance requires in-depth functional study to rule in or out disease-causing mutations. This is a particular concern for genomic sequence differences in glycosyltransferases, who...

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Detalhes bibliográficos
Publicado no:Glycobiology
Main Authors: Fiete, Dorothy, Mi, Yiling, Beranek, Mary, Baenziger, Nancy L, Baenziger, Jacques U
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Original articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5444257/
https://ncbi.nlm.nih.gov/pubmed/28204496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/glycob/cwx018
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