Molecular genetic analysis of inherited kidney dysfunction

Study ID Alternative Stable ID Type
phs000484 Probands

Study Description

Samples were chosen for sequencing from a set of probands from pedigrees with apparently inherited forms of focal segmental glomerulosclerosis (FSGS). Several genes have been identified which when mutated cause FSGS under both recessive and dominant inheritance patterns. These known genes are estimated to explain less than 50% of inherited FSGS. We chose samples from individuals in which previous analyses of known disease genes failed to identify likely disease-causing mutations.

Archive Link Archive Accession
dbGaP phs000484

Who archives the data?

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