The objective of this study was to search for the deletion of exon 24 and exons 24-27 that had been previously reported in Italian patients affected by pseudoxanthoma elasticum, anb autosomal recessive disorder characterized by calcification and fragmentation of elastic fibers as a conseguence of mutations in the ABCC6 gene. To detect deletions in the ABCC6 gene the development and use of long range PCR procedure using appropriately designed primers are described.
Rearrangements of the ABCC6 gene in Italian patients with PXE / Guerra, Deanna; Costa, Sonia; J., Roggiani; Rabacchi, Claudio; CALANDRA BUONAURA, Sebastiano; I., PASQUALI RONCHETTI; Quaglino, Daniela. - In: EUROPEAN JOURNAL OF HISTOCHEMISTRY. - ISSN 1121-760X. - ELETTRONICO. - S2:(2011), pp. 6-6. (Intervento presentato al convegno XXXI Convegno Nazionale Società Italiana per lo Studio del Connettivo tenutosi a Varese nel 27-28 Ottobre 2011).
Rearrangements of the ABCC6 gene in Italian patients with PXE
GUERRA, Deanna;COSTA, SONIA;RABACCHI, CLAUDIO;CALANDRA BUONAURA, Sebastiano;QUAGLINO, Daniela
2011
Abstract
The objective of this study was to search for the deletion of exon 24 and exons 24-27 that had been previously reported in Italian patients affected by pseudoxanthoma elasticum, anb autosomal recessive disorder characterized by calcification and fragmentation of elastic fibers as a conseguence of mutations in the ABCC6 gene. To detect deletions in the ABCC6 gene the development and use of long range PCR procedure using appropriately designed primers are described.
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