Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Journal of Investigative Dermatology

Volumn 135, Issue 4, 2015, Pages 992-998

  Hosen, Mohammad J ^a,b   Van Nieuwerburgh, Filip ^c   Steyaert, Wouter ^a   Deforce, Dieter ^c   Martin, Ludovic ^d   Leftheriotis, Georges ^d   De Paepe, Anne ^a   Coucke, Paul J ^a   Vanakker, Olivier M ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b SHAHJALAL UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Bangladesh)

^c GHENT UNIVERSITY   (Belgium)

^d ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLASE; GAMMA GLUTAMYL CARBOXYLASE; GENOMIC DNA; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 6; PHOSPHODIESTERASE I; PYROPHOSPHATASE PHOSPHODIESTERASE 1; UNCLASSIFIED DRUG; VASCULOTROPIN A; VITAMIN K EPOXIDE REDUCTASE; ABCC6 PROTEIN, HUMAN; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; GLUTAMYL CARBOXYLASE; INORGANIC PYROPHOSPHATASE; LIGASE; MULTIDRUG RESISTANCE PROTEIN; PHOSPHODIESTERASE; VKORC1 PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; EXOME; EYE DISEASE; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC PROCEDURES; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN MANIFESTATION; STOP CODON; WHOLE EXOME SEQUENCING; YOUNG ADULT; ALLELE; DNA SEQUENCE; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MOLECULAR PATHOLOGY; MUTATION; PHENOTYPE;

ADULT; ALLELES; CARBON-CARBON LIGASES; EXOME; FEMALE; GENETIC VARIATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PATHOLOGY, MOLECULAR; PHENOTYPE; PHOSPHORIC DIESTER HYDROLASES; PSEUDOXANTHOMA ELASTICUM; PYROPHOSPHATASES; SEQUENCE ANALYSIS, DNA; VITAMIN K EPOXIDE REDUCTASES;

EID: 84925355414     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2014.421     Document Type: Article

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