Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.

Löwik, M M

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