Table 1 Gene locus((NM_000271.4) c.178 C > T, c.2728G > A) of the gene NPC1 was amplified by PCR and identified by Sanger sequencing
From: A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis
Variance region | Base(s) change | |
|---|---|---|
Patient | E2 | c.178 C > T (p.Q60X) |
E18 | c.2728G > A (p.G910S) | |
Patient’s father | E2 | c.178 C > T (p.Q60X) |
Patient’s mother | E18 | c.178 C > T (p.Q60X) |