Title : Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.

Pub. Date : 2020 Aug

PMID : 32627353






1 Functional Relationships(s)
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1 The patient brains displayed substantial loss of xenobiotic clearance ability, as demonstrated by [11 C]verapamil positron emission tomography (PET) study, linking this phenotype with ABCB1 function. Verapamil ATP binding cassette subfamily B member 1 Homo sapiens