Condition: Serum lipids high (finding)


rs1557055405 in ABCD1 gene and Serum lipids high (finding) PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Serum lipids high (finding) PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.