TY  - GEN
AU  - Maxwell,Megan A
AU  - Allen,Tamara
AU  - Solly,Pamela B
AU  - Svingen,Terje
AU  - Paton,Barbara C
AU  - Crane,Denis I
TI  - Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
SN  - 1098-1004
PY  - 2003///0103
KW  - ATPases Associated with Diverse Cellular Activities
KW  - Australia
KW  - Base Sequence
KW  - Cell Line
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Cohort Studies
KW  - Exons
KW  - Frameshift Mutation
KW  - Gene Frequency
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Membrane Proteins
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Peroxisomal Disorders
KW  - diagnosis
KW  - Peroxisomes
KW  - metabolism
KW  - Phenotype
KW  - Protein Transport
KW  - RNA, Messenger
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.10128
ER  -