Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report

Figure 2 Sanger sequencing at the position of c. 12160C>G, p.R4054G on the Alström syndrome 1 gene. The proband carried a homozygotic mutation of c.12160C>G, p.R4054G in exon 20 inherited from her father, while her mother had normal sequence in exon 20 on one chromosome and a deletion of exons 18-21 on the other chromosome.