Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

Human Genetics

Volumn 114, Issue 3, 2004, Pages 314-316

  Calado, Joaquim ^a,b   Soto, Karina ^b   Clemente, Carla ^c   Correia, Pedro ^b   Rueff, José ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b HOSPITAL FERNANDO FONSECA   (Portugal)

^c STAB GENÓMICA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 16; CONSANGUINITY; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; KIDNEY TUBULE DISORDER; MALE; MISSENSE MUTATION; MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE GENE; RENAL DIABETES; SEQUENCE ANALYSIS;

ADULT; CHROMOSOMES, HUMAN, PAIR 16; GENES, RECESSIVE; GLYCOSURIA, RENAL; HETEROZYGOTE; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; SODIUM-GLUCOSE TRANSPORTER 2;

EID: 1142263153     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1054-x     Document Type: Article

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