Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: Possible genotype-phenotype correlation with hepatic onset

Digestive Diseases and Sciences

Volumn 52, Issue 10, 2007, Pages 2570-2575

  Leggio, Lorenzo ^a   Malandrino, Noemi ^a,b   Loudianos, Georgios ^c,d   Abenavoli, Ludovico ^a   Lepori, Maria Barbara ^d   Capristo, Esmeralda ^a,b   De Virgiliis, Stefano ^d   Gasbarrini, Giovanni ^a   Addolorato, Giovanni ^a  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Genotype; Hepatic onset; Phenotype; T1288R mutation; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SCREENING TEST; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CATION TRANSPORT PROTEINS; CHILD; COPPER; DISEASE PROGRESSION; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; RETROSPECTIVE STUDIES;

EID: 34548498606     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-006-9666-3     Document Type: Article

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