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

Human Mutation

Volumn 20, Issue 5, 2002, Pages 342-351

  Maxwell, Megan A ^a   Allen, Tamara ^a   Solly, Pamela B ^b   Svingen, Terje ^a   Paton, Barbara C ^b,c   Crane, Denis I ^a  

^a GRIFFITH UNIVERSITY   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Infantile Refsum disease, IRD; Mutation detection; Neonatal adrenoleukodystrophy, NALD; Peroxisome biogenesis disorder, PBD; PEX1; Zellweger syndrome, ZS

Indexed keywords

GENE PRODUCT; PROTEIN PEX1; UNCLASSIFIED DRUG;

ADRENOLEUKODYSTROPHY; ARTICLE; AUSTRALIA; CELL MIGRATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DEGENERATIVE DISEASE; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC CODE; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; NERVE CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEROXISOME BIOGENESIS DISORDER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; REFSUM DISEASE; ZELLWEGER SYNDROME;

AUSTRALIA; BASE SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; EXONS; FRAMESHIFT MUTATION; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; PHENOTYPE; PROTEIN TRANSPORT; RNA, MESSENGER;

EID: 0036414691     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10128     Document Type: Article

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