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Article

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Human mutation - 1 Jul 2010

Bruce Christopher K, Smith Matthew, Rahman Fatima, Liu Zhi-feng, McMullan Dominic J, Ball Sarah, Hartley Jane, Kroos Marian A, Heptinstall Lesley, Reuser Arnold J J, Rolfs Arndt, Hendriksz Chris, Kelly Deirdre A, Barrett Timothy G, MacDonald Fiona, Maher Eamonn R, Gissen Paul

Abstract excerpt

The molecular genetic diagnosis of inherited metabolic disorders is challenging. The diseases are rare, and most show locus heterogeneity. Hence, testing of the genes associated with IMDs is time consuming and often not easily available. We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52...

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Identifiers

PMID: 20578233
DOI: 10.1002/humu.21261

Genes

NPC1
GAA
NPC2
WFS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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