High incidence and allelic homogeneity of wilson disease in 2 isolated populations: A prerequisite for efficient disease prevention programs

Journal of Pediatric Gastroenterology and Nutrition

Volumn 47, Issue 3, 2008, Pages 334-338

  Antonietta, Zappu ^a   Olympia, Magli ^b   Lepori, Maria Barbara ^a   Valentina, Dessì ^a   Stefania, Diana ^a   Simona, Incollu ^a   Emmanuel, Kanavakis ^c   Polyxeni, Nicolaidou ^d   Nina, Manolaki ^e   Andreas, Fretzayas ^d   Stefano, De Virgiliis ^a   Antonio, Cao ^f   Georgios, Loudianos ^a,g  

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

^b General Hospital   (Greece)

^c Department of Medical Genetics ^*

^d UNIVERSITY OF ATHENS   (Greece)

^e PENTELI CHILDREN S HOSPITAL   (Greece)

^f Istituto di Neurogenetica e Neurofarmacologia CNR   (Italy)

^g Osp Regionale per le Microcitemie   (Italy)

Author keywords

Mutation; Prevention; Screening; Treatment; Wilson disease

Indexed keywords

ALLELE; ARTICLE; CELL FREE SYSTEM; CHROMOSOME MUTATION; CONTROLLED STUDY; DRUG SCREENING; GENE FREQUENCY; GREECE; HEALTH EDUCATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INCIDENCE; KIDNEY HOMOGENATE; LIVER HOMOGENATE; MUTATION; MUTATION RATE; PRIORITY JOURNAL; SCREENING TEST; WILSON DISEASE; FEMALE; GENE DELETION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; ITALY; MALE; METABOLISM; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; RISK FACTOR; SINGLE STRAND CONFORMATION POLYMORPHISM;

CERULOPLASMIN; COPPER;

CERULOPLASMIN; COPPER; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETICS, POPULATION; GENOTYPE; GREECE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; INFANT, NEWBORN; ITALY; MALE; MUTATION; NEONATAL SCREENING; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RISK FACTORS; SEQUENCE DELETION;

EID: 58149214535     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817094f6     Document Type: Article

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