Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. [electronic resource]
- Kidney international Nov 2007
- 1198-203 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0085-2538
10.1038/sj.ki.5002469 doi
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