机译:先天性缺sucrase-isomaltase:常见的因纽特人的创始人突变的识别
Childrens Hosp Eastern Ontario, Div Gastroenterol Hepatol & Nutr, Ottawa, ON K1H 8L1, Canada;
Univ Western Ontario, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada;
Univ Washington, Dept Pediat, Seattle, WA 98195 USAUniv Ottawa, Dept Pediat, Ottawa, ON K1N 6N5, CanadaChildrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada;
Chronic diarrhea; Malabsorption Syndromes; Founder MutationDigestionOligosaccharidesIsomaltoseInuit;
机译:Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
机译:Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation
机译:A common Greenlandic Inuit BRCA1 RING domain founder mutation.
机译:mutations in the adenomatous polyposis coli (apC) gene in patients with familial adenomatous polyposis (Fap) with congenital hypertrophy of the retinal pigment epithelium (CHRpE).