Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Table 2

Sequence analysis of the SLC22A5 gene.

Patient	Gene tested	Genotype
Siblings	SLC22A5	c.285T>C homozygous sequence change (p.Leu95Leu); c.807A>G homozygous sequence change (p.Leu269Leu); c.824+13T>C homozygous sequence change; c.1427 T>G homozygous sequence change (p.Leu476Arg)
Mother		c.285T>C heterozygous sequence change (p.Leu95Leu); c.807A>G heterozygous sequence change (p.Leu269Leu); c.824+13T>C heterozygous sequence change; c.1427 T>G heterozygous sequence change (p.Leu476Arg)
Father		c.285T>C homozygous sequence change (p.Leu95Leu); c.807A>G homozygous sequence change (p.Leu269Leu); c.824+13T>C homozygous sequence change; c.1427 T>G heterozygous sequence change (p.Leu476Arg)