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Volumn 1536, Issue 2-3, 2001, Pages 141-147
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A missense mutation in the Na+/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: Normal trafficking but inactivation of the mutant protein
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Author keywords
Congenital glucose galactose malabsorption; Na+ glucose cotransporter; Protein trafficking; SGLT1
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Indexed keywords
DNA;
GALACTOSE;
GLUCOSE;
MUTANT PROTEIN;
SODIUM;
ANIMAL CELL;
ARTICLE;
BASE MISPAIRING;
CASE REPORT;
CELL MEMBRANE;
CONTROLLED STUDY;
DNA TEMPLATE;
EXON;
FEMALE;
GENE AMPLIFICATION;
GENE EXPRESSION;
GENE SEQUENCE;
GENETIC ANALYSIS;
GENETIC DISORDER;
GLUCOSE TRANSPORT;
HETEROZYGOTE;
HUMAN;
IMMUNOBLOTTING;
INTRON;
JAPAN;
MALABSORPTION;
MISSENSE MUTATION;
MOLECULAR CLONING;
NONHUMAN;
OOCYTE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
SEQUENCE ANALYSIS;
XENOPUS LAEVIS;
ANIMALS;
BASE SEQUENCE;
CARBOHYDRATE METABOLISM, INBORN ERRORS;
EXONS;
FEMALE;
GALACTOSE;
GLUCOSE;
HUMANS;
INFANT, NEWBORN;
MALABSORPTION SYNDROMES;
MEMBRANE GLYCOPROTEINS;
MONOSACCHARIDE TRANSPORT PROTEINS;
MUTATION, MISSENSE;
OOCYTES;
PEDIGREE;
SODIUM-GLUCOSE TRANSPORTER 1;
XENOPUS;
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EID: 0035978475
PISSN: 09254439
EISSN: None
Source Type: Journal
DOI: 10.1016/S0925-4439(01)00043-6 Document Type: Article |
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Times cited : (44)
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References (20)
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