Clinical and molecular characterization of Wilson's disease in China: Identification of 14 novel mutations

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Li, Xin Hua ^a   Lu, Yi ^b,c   Ling, Yun ^a   Fu, Qing Chun ^d   Xu, Jie ^a   Zang, Guo Qing ^a   Zhou, Feng ^d   De Min, Yu ^a   Han, Yue ^a   Zhang, Dong Hua ^a   Gong, Qi Ming ^a   Lu, Zhi Meng ^a   Kong, Xiao Fei ^a   Wang, Jian She ^b,c   Zhang, Xin Xin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

^d Nanjing Military Command   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; CERULOPLASMIN; COPPER; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

ABDOMINAL PAIN; ADOLESCENT; ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASCITES; BRAIN ATROPHY; CERULOPLASMIN BLOOD LEVEL; CHILD; CHINA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; COOMBS TEST; COORDINATION DISORDER; DYSARTHRIA; EDEMA; FATIGUE; FATTY LIVER; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HEMOLYTIC ANEMIA; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPERSALIVATION; JAUNDICE; LIMB WEAKNESS; LIVER CIRRHOSIS; LIVER FAILURE; LIVER FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MYOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PROMOTER REGION; SCHOOL CHILD; TREMOR; URINE LEVEL; WILSON DISEASE; ASIAN; EXON; GENETIC SCREENING; GENETICS; HOMOZYGOTE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; URINE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ALANINE TRANSAMINASE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CERULOPLASMIN; CHILD; CHILD, PRESCHOOL; COPPER; EXONS; FEMALE; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 78651074120     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-6     Document Type: Article

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