Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Sangers sequencing results of the SPG11 (NM_025137.3) variants identified by whole exome sequencing of the patient. (a) Showing the c.1322G > A mutation in exon 6 and (b) showing the c.3121C > T mutation in exon 17 of the SPG11 gene.
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