A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

Kidney International

Volumn 67, Issue 1, 2005, Pages 34-41

  Magen, Daniella ^a   Sprecher, Eli ^b   Zelikovic, Israel ^b   Skorecki, Karl ^b  

^a MEYER CHILDREN S HOSPITAL   (Israel)

^b NONE

Author keywords

Aminoaciduria; Diabetes mellitus; Proximal tubule; Renal glucosuria

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER; PROTEIN; SODIUM GLUCOSE COTRANSPORTER 2; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMINO ACID TRANSPORT; AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC TRAIT; GLUCOSE ABSORPTION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT; GLUCOSE URINE LEVEL; GLUCOSURIA; HAPLOTYPE; HUMAN; INFANT; KIDNEY PROXIMAL TUBULE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RENAL DIABETES; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SLC5A2 GENE;

EID: 10944238594     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2005.00053.x     Document Type: Article

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