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The Human ATP-Binding Cassette (ABC) Transporter Superfamily

2021-12-20

Abstract excerpt

The ATP-binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra- and intra-cellular 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. Common polymorphisms and rare variants in ABC genes are a...

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Literature Corpus work
506f8d51-baf2-5b51-a1d6-f555c32b389f
DOI
10.22541/au.164001179.92800452/v1
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