Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. [electronic resource]
Producer: 20041109Description: 500-506 p. digitalISSN:- 1434-5161
- Alleles
- Base Sequence
- Blotting, Northern
- Chromosomes, Human, Pair 19 -- genetics
- DNA Primers
- DNA, Complementary -- genetics
- Dipeptidases -- deficiency
- Electrophoresis, Capillary
- Fibroblasts -- metabolism
- Genes, Recessive -- genetics
- Humans
- Molecular Sequence Data
- Mutation -- genetics
- Peptides -- metabolism
- Plasmids -- genetics
- Polymorphism, Single-Stranded Conformational
- Portugal
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA
- Structure-Activity Relationship
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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