TY  - GEN
AU  - Löwik,M M
AU  - Groenen,P J T A
AU  - Pronk,I
AU  - Lilien,M R
AU  - Goldschmeding,R
AU  - Dijkman,H B
AU  - Levtchenko,E N
AU  - Monnens,L A
AU  - van den Heuvel,L P
TI  - Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation
SN  - 0085-2538
PY  - 2007///1207
KW  - Actins
KW  - metabolism
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Amino Acid Sequence
KW  - Binding Sites
KW  - Biopsy
KW  - Cadaver
KW  - Child, Preschool
KW  - Codon, Terminator
KW  - Consanguinity
KW  - Cytoskeletal Proteins
KW  - Glomerular Filtration Rate
KW  - Glomerulosclerosis, Focal Segmental
KW  - Homozygote
KW  - Humans
KW  - Kidney Glomerulus
KW  - Kidney Transplantation
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nucleic Acid Amplification Techniques
KW  - Protein Binding
KW  - Protein Structure, Tertiary
KW  - Sequence Analysis, DNA
KW  - Sequence Homology, Amino Acid
KW  - Treatment Outcome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ki.5002469
ER  -