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Genetic causes of surfactant protein abnormalities

18 Mar 2019

Abstract excerpt

PURPOSE OF REVIEW: Mutations in genes encoding proteins critical for the production and function of pulmonary surfactant cause diffuse lung disease. Timely recognition and diagnosis of affected individuals is important for proper counseling concerning prognosis and recurrence risk. RECENT FINDINGS: Involved genes include those encoding for surfactant proteins A, B, and C, member A3 of the ATP-binding cassette...

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PMID: 31090574
DOI: 10.1097/mop.0000000000000751

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