Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: Association with liver disease

Journal of Clinical Gastroenterology

Volumn 44, Issue 6, 2010, Pages 432-439

  Barada, Kassem ^a   El Atrache, Mazen ^a   El Hajj, Ihab I ^a   Rida, Khaled ^a   El Hajjar, Jida ^a   Mahfoud, Ziyad ^a   Usta, Julnar ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

ATP hinge; ATP7B; copper toxicity; liver disease; Wilson disease

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATP7B GENE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTRANSAMINASEMIA; LEBANON; LIVER CIRRHOSIS; LIVER DISEASE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; WILSON DISEASE; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENETICS; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; MALE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; ADOLESCENT; CATION TRANSPORT PROTEINS; CHILD; EXONS; FAMILY; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; LEBANON; LIVER DISEASES; MALE; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

EID: 77953809282     PISSN: 01920790     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCG.0b013e3181ce5138     Document Type: Article

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