Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. [electronic resource]
Producer: 20030103Description: 342-51 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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