PEX7 gene mutation - Sanjay Manohar's Medical Browser
PEX7 gene mutation
external
Effects
Refsum disease
Parents
Mutation at genetic locus
Description
"Locus 6q23.3 shortage of phytanoyl-CoA hydroxylase prevents peroxisomes from breaking down phytanic acid."
Type item name:
Sanjay Manohar
2006