Article

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophy

2020-10-07

Abstract excerpt

<h4>Background: </h4> X-linked adrenoleukodysrophy (ALD) is an inherited peroxisomal metabolism disorder, results from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 ( ABCD1 ) gene. The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in the excessive saturated very long chain fatty acids (VLCFAs) accumulation in organs including brain, spine and adren...

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Literature Corpus work: eb9b1629-3b85-5eeb-9430-b725258cdeba
DOI: 10.21203/rs.3.rs-86131/v1

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