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Official publication of the Saudi Thoracic Society, affiliated to King Saud University |
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Year : 2017 | Volume: 12 | Issue Number: 3 CASE REPORTThe most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate AlAnazi AlNashmi, Epaud Ralph, Heena Humariya, de becdelievre Alix, Miqdad Abeer Mohammad, Fanen Pascale
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