Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

Journal of the European Academy of Dermatology and Venereology

Volumn 21, Issue 3, 2007, Pages 368-373

  Martin, Ludovic ^a,b,d   Chassaing, N ^c   Delaite, D ^b   Esteve E ^a   Maitre F ^a   Le Bert, M ^b  

^a CENTRE HOSPITALIER RÉGIONAL D ORLÉANS   (France)

^b CNRS   (France)

^c CHU PURPAN   (France)

^d Hopital Porte Madeleine   (France)

Author keywords

ABCC6; Elastorrhexis; Heterozygosity; Pseudoxanthoma elasticum

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER C6; BONE SIALOPROTEIN; ELASTIN; UNCLASSIFIED DRUG; VITRONECTIN;

ANTIBODY LABELING; ARTICLE; CASE REPORT; ELASTIC FIBER; FEMALE; GENOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SKIN BIOPSY;

ALLELES; EXONS; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOENZYME TECHNIQUES; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM;

EID: 33846977383     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2006.01940.x     Document Type: Article

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