ArticleInternational journal of molecular medicine2015

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Yuka Aoyama et al.PubMed ↗Full text ↗Publisher ↗

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