Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

Human Genetics

Volumn 111, Issue 6, 2002, Pages 544-547

  Van Den Heuvel, L P ^a   Assink, K ^a   Willemsen, M ^a   Monnens, L ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; GENOMIC DNA; GLUCOSE; SODIUM GLUCOSE COTRANSPORTER 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHILD; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA SEQUENCE; DNA TEMPLATE; EVIDENCE BASED MEDICINE; EXON; FAMILY HISTORY; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KYPHOSCOLIOSIS; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RENAL DIABETES; SEQUENCE ANALYSIS; TENDON REFLEX; TURKEY (REPUBLIC);

BASE SEQUENCE; CHILD, PRESCHOOL; DNA PRIMERS; GENES, RECESSIVE; GLYCOSURIA, RENAL; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; SODIUM-GLUCOSE TRANSPORTER 2;

RAPHIA FRATER;

EID: 0036937335     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0820-5     Document Type: Article

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