[A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency].

A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.