Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: Genotypic overlap with pseudoxanthoma elasticum

Journal of Investigative Dermatology

Volumn 134, Issue 3, 2014, Pages 658-665

  Li, Qiaoli ^a   Brodsky, Jill L ^b,c   Conlin, Laura K ^b   Pawel, Bruce ^b   Glatz, Andrew C ^b,c   Gafni, Rachel I ^d   Schurgers, Leon ^e   Uitto, Jouni ^a   Hakonarson, Hakon ^b,c   Deardorff, Matthew A ^b,c   Levine, Michael A ^b,c  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^e MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FETUIN A; FIBROBLAST GROWTH FACTOR 23; MATRIX GLA PROTEIN; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 6; OSTEOCALCIN; UNCLASSIFIED DRUG; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; PHOSPHODIESTERASE I;

ARTERY CALCIFICATION; ARTICLE; CHILD; CLINICAL ARTICLE; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1 GENE; ECTOPIC TISSUE; EXON; GENE; GENE LOCUS; GENE PRODUCT; GENERALIZED ARTERIAL CALCIFICATION OF INFANCY; GENETIC ASSOCIATION; HAPLOTYPE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; IMMUNOASSAY; IMMUNOFLUORESCENCE; INFANT; INTRON; MISSENSE MUTATION; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 6 GENE; NONSENSE MEDIATED MRNA DECAY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSEUDOXANTHOMA ELASTICUM; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE METABOLISM; AUTOSOMAL RECESSIVE DISORDER; BLOOD VESSEL; DISEASE ASSOCIATION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENOTYPE; MALE; MINERALIZATION; SCHOOL CHILD;

ADULT; ARTERIES; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION, MISSENSE; PEDIGREE; PSEUDOXANTHOMA ELASTICUM; SIBLINGS; VASCULAR CALCIFICATION;

EID: 84894079801     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.370     Document Type: Article

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