Research Article

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Table 3

SLC25A13 ASVs harboring r.329_468del in the patient C0282 and 8 healthy volunteers.

SubjectsSLC25A13 ASVs
With r.329_468 skippingWithout r.329_468 skipping

C028226 (100%)0 (0.0%)129.2<0.01
Volunteers1 (0.9%)115 (99.1%)

Correction for continuity was performed for calculation in this table.