Clinical utility gene card for: Adrenoleukodystrophy

Abstract

1.7 Analytical validation Bi-directional sequencing of genomic DNA. After the index case was tested, additional family members (and/or control samples) should be genotyped. The results obtained should be compared with database entries (www.x-ald.nl) and data in the literature. Verification of the sequence variants found by sequencing is done with an… (More)
DOI: 10.1038/ejhg.2011.193

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