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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review

Fig. 2

Sanger sequencing results showed mutations in DGAT1 detected in the patient’s family. (A) Chromatogram showing the patient with a heterozygous mutation at chr8:145544996, c.276T > A. (B) Chromatogram showing the patient’s father carrying the same heterozygous mutation, c.276T > A. (C) Chromatogram showing the patient’s mother with no mutation at this site. (D) Chromatogram showing the patient with another heterozygous mutation at chr8: 145,545,058 c.214 C > T. (E) Chromatogram showing the patient’s father with no mutation at this site. (F) Chromatogram showing the patient’s mother carrying the same heterozygous mutation c.214 C > T

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