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Fig. 1 | Cellular & Molecular Biology Letters

Fig. 1

From: A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

Fig. 1

Scheme of the NT5C3A gene transcript variant 4 (NM_001002010.2)—erythrocyte-specific nucleotidase isoforms (cN-IIIA-R). Additional exon R appears only in the reticulocyte mRNA splice variant, which was detected downstream of exon 2 [28]. The figure shows the location of the in-frame deletion (p.F149del) detected in patients with HA in the studied family. Localization of the primers used for cDNA amplification is indicated by arrows

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Cellular & Molecular Biology Letters

ISSN: 1689-1392

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