Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant

Sucrase isomaltase (SI) is the most prominent disaccharidase in the small intestine. Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder caused by variants in the SI gene. A homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), has been identified in CSID in...

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Veröffentlicht in:	Biochimica et biophysica acta. Molecular basis of disease 2024-02, Vol.1870 (2), p.166947-166947, Article 166947
Hauptverfasser:	Tannous, Stephanie, Naim, Hassan Y
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Membrane - metabolism Homozygote Intestine, Small - metabolism Sucrase-Isomaltase Complex
Online-Zugang:	Volltext
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