Lung disease caused by ABCA3 mutations


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Kroener C., Wittmann T., Reu S., Teusch V., Klemme M., Rauch D., ...Daha Fazla

THORAX, cilt.72, sa.3, ss.213-220, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.