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Article

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

Human mutation - 1 Jun 2013

Monti Paola, Russo Debora, Bocciardi Renata, Foggetti Giorgia, Menichini Paola, Divizia Maria T, Lerone Margherita, Graziano Claudio, Wischmeijer Anita, Viadiu Hector, Ravazzolo Roberto, Inga Alberto, Fronza Gilberto

Abstract excerpt

TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC syndromes, respectively. These alleles, along with previously identified G134D (p.Gly173Asp) and...

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PMID: 23463580
DOI: 10.1002/humu.22304

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PERP

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EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.PMID 23463580Read ↗

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