Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Human Mutation

Volumn 20, Issue 4, 2002, Pages 260-266

  Loudianos, G ^a   Lovicu, M ^b   Dessi, V ^c   Tzetis, M ^d   Kanavakis, E ^d   Zancan, L ^e   Zelante, L ^f   Galvez Galvez C ^g   Cao, A ^a,b,c  

^a Osp Regionale per le Microcitemie   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d UNIVERSITY OF ATHENS   (Greece)

^e UNIVERSITY OF PADOVA   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g Hospital Militar   (Spain)

Author keywords

Alternative splicing; ATP7B; Molecular analysis; WD; Wilson disease

Indexed keywords

GENE PRODUCT; MESSENGER RNA; RNA; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; DONOR SITE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; INTRON; LIVER; LYMPHOCYTE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SPLICEOSOME; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; AGE OF ONSET; ALTERNATIVE SPLICING; CATION TRANSPORT PROTEINS; CHILD; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER;

EID: 0036390072     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10121     Document Type: Article

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