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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

Fig. 3

Schematic illustration for loss of 10 out of 11 transmembrane domains of ENT3 protein as a consequence of c.307-308delTT (p.Phen103fs) frame-shift mutation in SLC29A3 gene. a The normal sequence of the gene and the corresponding amino acid sequence have shown on the left. Two deleted thymidines are underlined. The mutated sequence and the corresponding truncated protein are depicted on the right. b Ten out of 11 transmembrane domains of ENT3 protein are deleted due to frame-shift mutation c.307-308delTT (p.Phen103fs)

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BMC Medical Genetics

ISSN: 1471-2350

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