Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. [electronic resource]
Producer: 19991103Description: 487-96 p. digitalISSN:- 1059-7794
- ATPases Associated with Diverse Cellular Activities
- Adenosine Triphosphatases -- biosynthesis
- Base Sequence
- Exons
- Fibroblasts
- Fluorescent Antibody Technique
- Gene Expression Regulation
- Gene Library
- Humans
- Introns
- Models, Genetic
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Mutation, Missense
- Peroxisomal Disorders -- genetics
- Transfection
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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