High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease

World Journal of Gastroenterology

Volumn 14, Issue 38, 2008, Pages 5876-5879

  Kucinskas, Laimutis ^a   Jeroch, Jolanta ^a   Vitkauskiene, Astra ^a   Sakalauskas, Raimundas ^a   Petrenkiene, Vitalija ^a   Kucinskas, Vaidutis ^b   Naginiene, Rima ^a   Schmidt, Hartmut ^c   Kupcinskas, Limas ^a  

^a KAUNAS UNIVERSITY OF MEDICINE   (Lithuania)

^b VILNIUS UNIVERSITY   (Lithuania)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

ATP7B gene; c.3207C>A (p.H1069Q) mutation; Cirrhosis; Copper in liver biopsies; Urine copper; Wilson disease

Indexed keywords

GENOMIC DNA; PENICILLAMINE; WILSON DISEASE PROTEIN; ZINC ACETATE; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHROMOSOME 6; CLINICAL ARTICLE; CONTROLLED STUDY; DEATH; DNA EXTRACTION; EXON; FAMILY STUDY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HEMOLYTIC ANEMIA; HEPATITIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LITHUANIA; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FAILURE; MALE; MENTAL DISEASE; MISSENSE MUTATION; MUTATION RATE; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRECIPITATION; RELATIVE; REMISSION; SIBLING; VENOUS BLOOD; WILSON DISEASE; CAUCASIAN; COHORT ANALYSIS; ETHNOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; LIVER; PATHOLOGY; PEDIGREE; PHENOTYPE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CATION TRANSPORT PROTEINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LITHUANIA; LIVER; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 59349088036     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.14.5876     Document Type: Article

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