ATP binding cassette member A3 (ABCA3): coming of age
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DOI: 10.1136/thorax-2022-219972
Abstract: Pathogenic variants in the ATP binding cassette member A3 (ABCA3) gene were first described in newborn infants with lethal respiratory failure in 2004. 1 Subsequent reports have expanded the clinical spectrum associated with biallelic ABCA3… read more here.
Keywords: abca3; member abca3; cassette member; atp binding ... See more keywords