Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

Maxwell, Megan A

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. [electronic resource] - Human mutation Nov 2002 - 342-51 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.10128 doi


ATPases Associated with Diverse Cellular Activities
Australia
Base Sequence
Cell Line
Child
Child, Preschool
Codon, Nonsense
Cohort Studies
Exons
Frameshift Mutation
Gene Frequency
Genotype
Humans
Infant
Infant, Newborn
Membrane Proteins--genetics
Molecular Sequence Data
Mutation
Peroxisomal Disorders--diagnosis
Peroxisomes--metabolism
Phenotype
Protein Transport
RNA, Messenger--metabolism