Figure 3 | Scientific Reports

Figure 3

From: Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis

Figure 3

The ELN mutation site and its conservation. (A) Human ELN gene maps to chromosome 7q11.23 and contains 34 exomes. The base pair mutation site is c.1939G>T, which is located on the exome 27 of ELN. (B) The proband and her father were confirmed to be heterozygous carriers of 1939G>T hybridization, and her mother was homozygous negative for this mutation, as shown by Sanger sequencing.

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