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Spastic paraplegia 35
- ... classified as having a separate disorder called spastic paraplegia 35. People with mutations in this gene resulting in ... hydroxylase domain containing 1 FAXDC1 FLJ25287 SCS7 spastic paraplegia 35 (autosomal recessive) SPG35 Tests of FA2H PubMed FATTY ...
- ... deoxyguanosine to another molecule called guanine. More than 35 PNP gene mutations have been identified in individuals ... nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 Jun; ...