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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site
Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R., Hastings, MichelleVolume:
14
Language:
english
Journal:
PLOS Genetics
DOI:
10.1371/journal.pgen.1007360
Date:
April, 2018
File:
PDF, 4.05 MB
english, 2018