Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

Hepatology

Volumn 52, Issue 5, 2010, Pages 1662-1670

  Wan, Lei ^a,b,c,d   Tsai, Chang Hai ^a,b,c   Hsu, Chin Moo ^a,b   Huang, Chin Chang ^e   Yang, Chih Chao ^f   Liao, Chiu Chu ^b   Wu, Chin Ching ^a   Hsu, Yu An ^g   Lee, Cheng Chun ^b   Liu, Su Ching ^b   Lin, Wei De ^b   Tsai, Fuu Jen ^a,b,c  

^a CHINA MEDICAL UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^f NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^g NATIONAL TSING HUA UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

5 (N ETHYL N ISOPROPYL)AMILORIDE; ALANINE; ASPARAGINE; ASPARTIC ACID; ISOLEUCINE; LYSINE; METHIONINE; PHENYLALANINE; PROLINE; SERINE; WILSON DISEASE PROTEIN;

5' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIOLOGICAL ACTIVITY; CANCER CELL; CLINICAL EXAMINATION; CONTROLLED STUDY; EXON; FEMALE; GENE IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; LIVER CANCER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; TAIWAN; WILD TYPE; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; APOPTOSIS; CATION TRANSPORT PROTEINS; COPPER; EXONS; GENES, REPORTER; GENETIC VARIATION; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION;

EID: 78049506139     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.23865     Document Type: Article

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