Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression

Blood Cells, Molecules, and Diseases

Volumn 53, Issue 4, 2014, Pages 246-252

  dos Santos, Andrey ^a   Dantas, Larissa Elizabeth Cordeiro ^a   Traina, Fabiola ^a   de Albuquerque, Dulcineia Martins ^a   Chaim, Elinton Adami ^a   Olalla Saad, Sara T ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Gilbert's Syndrome; Iron overload; Liver disease; P5'N; Pyrimidine 5' nucleotidase

Indexed keywords

BILIRUBIN; CYANOCOBALAMIN; FERRITIN; FOLIC ACID; GAMMA GLUTAMYLTRANSFERASE; 5' NUCLEOTIDASE; GLYCOPROTEIN; NT5C3 PROTEIN, HUMAN;

ADULT; AFRICAN; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLANGITIS; CHOLECYSTECTOMY; CHOLECYSTITIS; CHOLELITHIASIS; DISEASE SEVERITY; ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY; FEMALE; GALLSTONE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GILBERT DISEASE; HEMOLYSIS; HEMOLYTIC ANEMIA; HEPATOBILIARY DISEASE; HEREDITARY SPHEROCYTOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; IRON OVERLOAD; JAUNDICE; LIVER BIOPSY; LIVER FIBROSIS; LUNG HEMOSIDEROSIS; MALE; MEGALOCYTOSIS; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NUCLEOTIDE SEQUENCE; P5NI GENE; PHLEBOTOMY; PROMOTER REGION; PYRIMIDINE 5 NUCLEOTIDASE TYPE I DEFICIENCY; SPLENECTOMY; SPLENOMEGALY; THROMBOCYTE COUNT; UGT1A GENE; VATER PAPILLOTOMY; YOUNG ADULT; CHILD; CHOLESTASIS; COMPLICATION; CONSANGUINITY; DEFICIENCY; DNA SEQUENCE; ENZYMOLOGY; EPISTASIS; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; HOMOZYGOTE; LIVER; LIVER CIRRHOSIS; PATHOLOGY;

5'-NUCLEOTIDASE; ADULT; ALLELES; ANEMIA, HEMOLYTIC, CONGENITAL; CHILD; CHOLESTASIS; CONSANGUINITY; EPISTASIS, GENETIC; FEMALE; GILBERT DISEASE; GLYCOPROTEINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IRON OVERLOAD; LIVER; LIVER CIRRHOSIS; MALE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 84908092595     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.05.009     Document Type: Article

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