title: Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Uhrich
authors.forename: Zaining
authors.initials: Z
authors.lastname: Wu
authors.forename: Jie-Yu
authors.initials: JY
authors.lastname: Huang
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
mesh_terms: D000483:Alleles; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D004247:DNA; D004040:Dietary Carbohydrates / Q000378:metabolism; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D013394:Sucrase-Isomaltase Complex / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
chemical_list: D004040:Dietary Carbohydrates; D004247:DNA; D013394:Sucrase-Isomaltase Complex