Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. [electronic resource]
Producer: 20071207Description: 1198-203 p. digitalISSN:- 0085-2538
- Actins -- metabolism
- Adaptor Proteins, Signal Transducing -- genetics
- Amino Acid Sequence
- Binding Sites
- Biopsy
- Cadaver
- Child, Preschool
- Codon, Terminator -- genetics
- Consanguinity
- Cytoskeletal Proteins -- genetics
- Glomerular Filtration Rate
- Glomerulosclerosis, Focal Segmental -- genetics
- Homozygote
- Humans
- Kidney Glomerulus -- metabolism
- Kidney Transplantation
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Amplification Techniques
- Protein Binding
- Protein Structure, Tertiary
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
- Treatment Outcome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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