Title : Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Pub. Date : 2021 Nov 25

PMID : 34946825






1 Functional Relationships(s)
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1 Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T>A (pTyr275*) and c.1193C>T (pPro398Leu) in CYP7B1 gene. ptyr275 cytochrome P450 family 7 subfamily B member 1 Homo sapiens