Molecular analysis of glycogen storage disease type ib in sardinian population: Evidence for a founder effect

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 3, 2010, Pages 399-403

  Zappu, Antonietta ^a   Lilliu, Franco ^b   Podda, Rosa Anna ^b   Loudianos, Georgios ^b  

^a Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^b Territorial Department of Nephrology and Dialysis   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; ARTICLE; CROHN DISEASE; DNA DETERMINATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1B; HAPLOTYPE; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; NEUTROPENIA; PROTEINURIA; RNA ANALYSIS; ALTERNATIVE RNA SPLICING; CHILD; FEMALE; FOUNDER EFFECT; GENETICS; GLYCOGEN STORAGE DISEASE TYPE I; ITALY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ANTIPORTER; GLUCOSE TRANSPORTER; RNA; SLC37A4 PROTEIN, HUMAN;

ALTERNATIVE SPLICING; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; ITALY; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; RNA; YOUNG ADULT;

EID: 77954913425     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0024     Document Type: Article

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