focal segmental glomerulosclerosis 5

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focal segmental glomerulosclerosis 52016-11-25T20:55:39+00:00

focal segmental glomerulosclerosis 5 

NEPHROLOGY

A renal disorder (OMIM:613237) pathologically defined by foci of segmental glomerulosclerosis, resulting in proteinuria, reduced glomerular filtration rate and progressive renal dysfunction that often progresses to end-stage renal disease which require dialysis or kidney transplantation.

Molecular pathology Defects of INF2, which encodes a formin that plays a role in polymerisation and depolymerisation of actin filaments, cause focal segmental glomerulosclerosis 5.

References http://www.uniprot.org/uniprot/Q27J81

http://www.omim.org/entry/613237

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