WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

@article{Denamur2000WT1SM,
  title={WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.},
  author={Erick Denamur and Nathalie Bocquet and V{\'e}ronique Baudouin and Fernando Calais da Silva and Reiner A. Veitia and Michael Peuchmaur and Jacques Elion and Marie Claire Gubler and M. Fellous and Patrick Niaudet and Chantal Loirat},
  journal={Kidney international},
  year={2000},
  volume={57 5},
  pages={
          1868-72
        }
}
BACKGROUND Donor splice-site de novo heterozygous mutations in intron 9 of the Wilms' tumor gene (WT1) have been reported in Frasier syndrome, which is defined by the association of focal and segmental glomerulosclerosis (FSGS), male pseudohermaphroditism, and gonadoblastoma. These splice-site mutations alter the WT1 alternative splicing leading to two WT1 isoforms, with (+) or without (-) three amino acids, lysine-threonine-serine (KTS), between zinc fingers 3 and 4. The aim of this work was… CONTINUE READING
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