Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)

Modern Pathology

Volumn 12, Issue 12, 1999, Pages 1112-1123

  Bacchelli, Barbara ^a   Quaglino, Daniela ^a   Gheduzzi, Dealba ^a   Taparelli, Francesca ^a   Boraldi, Federica ^a   Trolli, Bruna ^b   Le Saux, Olivier ^c   Boyd, Charles D ^c   Ronchetti, Ivonne Pasquali ^a,d  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b Regione Lombardia   (Italy)

^c UNIVERSITY OF HAWAII   (United States)

^d Biomedical Sciences Department   (Italy)

Author keywords

Dermis; Diagnostic pathology; Elastin; Genetic disorder; Mineralization; Pseudoxanthoma elasticum; Skin

Indexed keywords

COLLAGEN; ELASTIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 16P; CLINICAL ARTICLE; CONTROLLED STUDY; DERMIS; ELASTIC FIBER; FEMALE; GENE LOCUS; HAPLOTYPE; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SCHOOL CHILD; SKIN BIOPSY;

ADOLESCENT; ADULT; AGED; BIOPSY; CHILD; CHROMOSOMES, HUMAN, PAIR 16; DNA, NEOPLASM; FEMALE; GENETIC SCREENING; HAPLOTYPES; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PSEUDOXANTHOMA ELASTICUM; SKIN;

EID: 0033378816     PISSN: 08933952     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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