Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome
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DOI: 10.1002/jcb.29945
Abstract: The peroxisome is responsible for a variety of vital pathways in primary metabolism, including the very long‐chain fatty‐acid oxidation and plasmalogen lipid biosynthesis. Autosomal recessive disorder of the Zellweger spectrum (ZSD) is a major subset… read more here.
Keywords: study; pex1; arg949trp gly970ala; zellweger ... See more keywords