Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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4. Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
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