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The human ATP‐binding cassette (ABC) transporter superfamily

1 Jun 2022

Abstract excerpt

The ATP-binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra- and intracellular membranes. Mutations in ABC genes cause 21 human disorders or phenotypes with Mendelian inheritance, including cystic fibrosis, adrenoleukodystrophy, retinal degeneration, cholesterol, and bile transport defects. To provide tools to study the function of human ABC...

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PMID: 35642569
DOI: 10.1002/humu.24418

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