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Updated: Oct 1, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia

Matthew T Hurford1, Cristina Marshall-Taylor, Sandy L Vicki

  • 1Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|May 29, 2002
PubMed
Abstract

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