The homozygosity index (hi) approach reveals high allele frequency for wilson disease in the sardinian population

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1308-1311

  Gialluisi, Alessandro ^a,b   Incollu, Simona ^c   Pippucci, Tommaso ^b   Lepori, Maria Barbara ^c   Zappu, Antonietta ^c   Loudianos, Georgios ^d   Romeo, Giovanni ^b,e  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d Osp Regionale per le Microcitemie   (Italy)

^e European Genetic Foundation   (Italy)

Author keywords

consanguinity; genetic epidemiology; homozygosity index; Wilson disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; GENE FREQUENCY; GENETIC EPIDEMIOLOGY; GEOGRAPHIC PATHOLOGY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INBREEDING; ITALY; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALTITUDE; CATION TRANSPORT PROTEINS; GENE FREQUENCY; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; MUTATION; PREVALENCE;

EID: 84885915837     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.43     Document Type: Article

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