Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Pedigree of the family showing the parents and the affected individual with mutations in the SPG11 and APOB gene. The son is compound heterozygous for SPG11 mutations, inheriting one variant from each of the parents. Both APOB variants were inherited from the father.
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