Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 340-343

  Møller, Lisbeth Birk ^a   Ott, Peter ^b   Lund, Connie ^a   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

ATP7B; Hepatic type; Molecular diagnosis; Partial gene deletion; Wilson disease

Indexed keywords

AMINO ACID; GENE PRODUCT; PENICILLAMINE;

ADULT; ARTICLE; ASCITES; ATP7B GENE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; EXON; GENE; GENE DELETION; GENE MUTATION; HEPATOMEGALY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INTRON; JAUNDICE; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FIBROSIS; MALE; NEUROLOGIC DISEASE; NEVUS; PRIORITY JOURNAL; PROTEIN DOMAIN; SPLENOMEGALY; SYMPTOMATOLOGY; TREATMENT OUTCOME; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CHILD; DNA PRIMERS; GENE DELETION; HOMOZYGOTE; HUMANS; LIVER DISEASES; MALE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

ARANEAE;

EID: 27444442101     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30977     Document Type: Article

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