Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. [electronic resource]
- American journal of medical genetics. Part A Jun 2009
- 1219-23 p. digital
Publication Type: Journal Article
1552-4833
10.1002/ajmg.a.32874 doi
Base Sequence Fibroblasts--metabolism Frameshift Mutation Gene Rearrangement Genetic Complementation Test Humans Infant Membrane Proteins--deficiency Molecular Sequence Data Sequence Deletion Zellweger Syndrome--genetics