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Journal articles
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
Abstract : Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was found in a retrospective clinical survey. Herein, we report the results of exploration of haemostasis in six LS patients. All patients had normal coagulation tests but prolonged closure times (CTs) in the PFA-100 system. Healthy donors' blood samples incubated with a RhoA kinase inhibitor had prolonged CTs. This suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in LS.
Cited literature [13 references]
https://www.hal.inserm.fr/inserm-00588304
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 13, 2011 - 1:17:03 PM
Last modification on : Monday, June 28, 2021 - 2:20:02 PM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 13, 2011 - 1:17:03 PM
Last modification on : Monday, June 28, 2021 - 2:20:02 PM