RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

Genetic testing and molecular biomarkers

Volumn 13, Issue 2, 2009, Pages 185-191

  Lovicu, Mario ^a   Lepori, Maria Barbara ^a   Incollu, Simona ^a   Dessì, Valentina ^a   Zappu, Antonietta ^a   Iorio, Raffaele ^a   D'Ambrosi, Mariangela ^a   Pellecchia, Maria Teresa ^a   Barone, Paolo ^a   Maggiore, Giuseppe ^a   De Virgiliis, Stefano ^a   Cao, Antonio ^a   Loudianos, Georgios ^a  

^a CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

RNA;

ADOLESCENT; ARTICLE; CHILD; CONSENSUS SEQUENCE; FEMALE; GENETICS; HUMAN; INTRON; ITALY; MALE; MISSENSE MUTATION; MUTATION; ONSET AGE; PRESCHOOL CHILD; RECESSIVE GENE; RNA SPLICING; WILSON DISEASE;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CONSENSUS SEQUENCE; FEMALE; GENES, RECESSIVE; HEPATOLENTICULAR DEGENERATION; HUMANS; INTRONS; ITALY; MALE; MUTATION; MUTATION, MISSENSE; RNA; RNA SPLICING;

EID: 67650022095     PISSN: None     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2008.0089     Document Type: Article

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