Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. [electronic resource]
Producer: 20000811Description: 509-21 p. digitalISSN:- 1059-7794
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cell Line
- DNA Primers
- DNA, Complementary -- metabolism
- Fibroblasts -- metabolism
- Frameshift Mutation
- Genetic Complementation Test
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Peroxins
- Peroxisomal Disorders -- genetics
- Phenotype
- Plasmids
- RNA Splicing
- Receptors, Cytoplasmic and Nuclear -- deficiency
- Reverse Transcriptase Polymerase Chain Reaction
- Transfection
- Zellweger Syndrome -- genetics
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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