Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin

Genetic Testing

Volumn 11, Issue 3, 2007, Pages 328-332

  Lepori, Maria Barbara ^a   Lovicu, Mario ^b   Dessi, Valentina ^a   Zappu, Antonietta ^a   Incollu, Simona ^a   Zancan, Lucia ^c   Giacchino, Raffaella ^d   Iorio, Raffaele ^e   Vajro, Pietro ^e   Maggiore, Giuseppe ^f   Marcellini, Matilde ^g   Barbera, Cristiana ^h   Pellecchia, Maria Teresa ^e   Simonetti, Rosanna ⁱ   Kostic, Vladimir ^j   Farci, Anna Maria Giulia ^k   Solinas, Antonello ^l   De Virgiliis, Stefano ^a   Cao, Antonio ^b   Loudianos, Georgios ^m  

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

^b CNR   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f Spedali Riuniti S Chiara   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ VILLA SOFIA CERVELLO HOSPITAL   (Italy)

^j CLINICAL CENTER OF SERBIA   (Serbia)

^k UNIVERSITY OF CAGLIARI   (Italy)

^l UNIVERSITY OF SASSARI   (Italy)

^m Osp Regionale per le Microcitemie   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

WILSON DISEASE PROTEIN;

ARTICLE; CHROMOSOME; CONTROLLED STUDY; EARLY DIAGNOSIS; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREVALENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; HEPATOLENTICULAR DEGENERATION; HUMANS; ITALY; MUTATION;

EID: 35348984542     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0015     Document Type: Article

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