Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum

Clinical Biochemistry

Volumn 47, Issue 15, 2014, Pages 60-67

  Dabisch Ruthe, Mareike ^a   Brock, Alexander ^a   Kuzaj, Patricia ^a   Charbel Issa, Peter ^b   Szliska, Christiane ^c   Knabbe, Cornelius ^a   Hendig, Doris ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Ankylosis; Calcification; Ectonucleotide pyrophosphatase 1; Pseudoxanthoma elasticum; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; ECTONUCLEOTIDE PYROPHOSPHATASE 1; ENZYME; INORGANIC PYROPHOSPHATASE; PROTEIN VARIANT; PYROPHOSPHATE; SINGLE NUCLEOTIDE VARIANT; UNCLASSIFIED DRUG; ANKH PROTEIN, HUMAN; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; PHOSPHATE TRANSPORTER; PHOSPHODIESTERASE;

ANKYLOSIS; ARTICLE; CELL METABOLISM; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA DETERMINATION; ENZYME METABOLISM; FEMALE; GENE CONTROL; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIFACTOR DIMENSIONALITY REDUCTION; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM; RARE DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ADULT; CALCINOSIS; CASE CONTROL STUDY; ELASTIC TISSUE; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALKALINE PHOSPHATASE; CALCINOSIS; CASE-CONTROL STUDIES; ELASTIC TISSUE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHOSPHATE TRANSPORT PROTEINS; PHOSPHORIC DIESTER HYDROLASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOXANTHOMA ELASTICUM; PYROPHOSPHATASES;

EID: 84910070011     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2014.07.003     Document Type: Article

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