Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

Human Mutation

Volumn 28, Issue 11, 2007, Pages 1108-1113

  Park, Sangwook ^a,b   Park, Jung Young ^c   Kim, Gu Hwan ^a   Choi, Jin Ho ^d   Kim, Kyung Mo ^e   Kim, Jong Bae ^b   Yoo, Han Wook ^a,e  

^a Asan Medical Center   (South Korea)

^b Yonsei University Wonju   (South Korea)

^c Korea University   (South Korea)

^d Chungnam National University College of Medicine   (South Korea)

^e University of Ulsan College of Medicine   (South Korea)

Author keywords

ATP7B; Confocal microscopy; Wilson disease; Yeast complementation system

Indexed keywords

CERULOPLASMIN; COMPLEMENTARY DNA; COPPER; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; ASIAN; ATP7B GENE; AUTOSOMAL RECESSIVE DISORDER; CELL STRAIN COS7; CHILD; CONFOCAL MICROSCOPY; CONTROLLED STUDY; EXPRESSION VECTOR; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; KOREAN; LIVER CIRRHOSIS; LYMPHOID CELL LINE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVE CELL DEGENERATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ALLELES; ANIMALS; CATION TRANSPORT PROTEINS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA, COMPLEMENTARY; GENE FREQUENCY; HEPATOLENTICULAR DEGENERATION; HUMANS; KOREA; MIDDLE AGED; MUTATION;

MAMMALIA;

EID: 35648945321     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20574     Document Type: Article

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