Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Al-Dirbashi, O Y

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