Fig. 1From: Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acidThe Pedigree and two mutations in CYP7B1. The position of the mutant nucleotide is showed with red arrows. The congenital bile acid synthetic defect type 3 (CBASD3)- or hereditary spastic paraplegia type 5 (SPG5)-affected individuals of the family are indicated by solid symbols; the black arrow indicates index patientBack to article page