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Figure 3 | BMC Medical Genetics

Figure 3

From: Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Figure 3

Molecular characterization. Sequencing of SLC2A10 exons and splice junctions revealed the following: Patient 1 was homozygous for the recurrent mutation c.1309G>A (p.Glu437Lys) in exon 3; Patients 2 and 3 were homozygous for the novel mutation c.254T>C (p.Leu85Pro) in exon 2; the parents of Patient 4 were heterozygous for the novel mutation c.1465G>C (p.Gly489Arg) in exon 4.

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