A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations
British Journal of Dermatology2016Vol. 176(5), pp. 1270–1278
Citations Over TimeTop 11% of 2016 papers
Veridiana Munford, Ligia Pereira Castro, Ricardo Peres do Souto, Letícia Koch Lerner, Juliana Brandstetter Vilar, Carolina Quayle, Huma Asif, André Passáglia Schuch, Tiago Antônio de Souza, Susan Ienne, Francisco I A Alves, Livia Maria Silva Moura, Pedro A. F. Galante, Anamaria A. Camargo, Raquel Liboredo, Sérgio D.J. Pena, Alain Sarasin, Sulamita Costa Wirth Chaibub, Carlos Frederico Martins Menck
Abstract
This work describes a genetic cluster involving POLH, and, particularly unexpected, with two independent founder mutations, including one that likely originated in Europe.
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