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Genotype–phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene |
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| Authors: | Elena Botta Tiziana Nardo Donata Orioli Roberta Guglielmino Roberta Ricotti Sergio Bondanza Francesco Benedicenti Giovanna Zambruno Miria Stefanini |
| Institution: | 1. Istituto di Genetica Molecolare Consiglio Nazionale delle Ricerche (CNR), Pavia, Italy;2. Laboratory of Tissue Engineering and Cutaneous Physiopathology and Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy;3. Clinical Genetics Service, Department of Pediatrics, General Regional Hospital, Bolzano, Italy |
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