Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect

Human Mutation

Volumn 14, Issue 4, 1999, Pages 294-303

  Loudianos, Georgios ^a,b   Dessi, Valeria ^c   Lovicu, Mario ^c   Angius, Andrea ^c   Figus, Annalena ^c   Lilliu, Franco ^c   De Virgiliis, Stefano ^c   Nurchi, Anna Maria ^c   Deplano, Angelo ^c   Moi, Paolo ^c   Pirastu, Mario ^c   Cao, Antonio ^a  

^a Osp Regionale per le Microcitemie   (Italy)

^b Territorial Department of Nephrology and Dialysis   (Italy)

^c NONE

Author keywords

ATPB7; Founder effect; Haplotype; Sardinian population; Screening; Wilson disease

Indexed keywords

ADENINE; CYTOSINE; DNA; GUANINE; THYMINE; TRANSCRIPTION FACTOR; URACIL;

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; NEWBORN SCREENING; PRIORITY JOURNAL; WILSON DISEASE;

EID: 0032835347     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9     Document Type: Article

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