Article
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.
Acta neuropathologica - 1 Aug 2003
Lesnik Oberstein Saskia A J, van Duinen Sjoerd G, van den Boom Rivka, Maat-Schieman Marion L C, van Buchem Mark A, van Houwelingen Hans C, Hegeman-Kleinn Ingrid M, Ferrari Michel D, Breuning Martijn H, Haan Joost
Abstract excerpt
CADASIL is caused by mutations in the NOTCH3 gene. Although increasingly recognized as a disease entity, the diagnostic confirmation can be lengthy or inconclusive. Recently, NOTCH3 immunostaining of skin biopsy specimens has been introduced as a new diagnostic test. The aim of this study was to independently assess the diagnostic value of NOTCH3 immunostaining, and determine whether the degree of immunostaining...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.