Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

Published 2016 View Full Article

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Title
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
Authors
Keywords
Carrier testing, Metabolic disease, Peroxisome, Diagnosis
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 118, Issue 2, Pages 123-127
Publisher
Elsevier BV
Online
2016-04-04
DOI
10.1016/j.ymgme.2016.03.009

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