Deletion of the entire <i>NF1</i> gene detected by FISH: Four deletion patients associated with severe manifestations

Abstract excerpt

Genetic analysis of NF1 has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et Al. [1994] to have deletions encompassing the entire gene. These deletions were detected by quantitative Southern analysis. To simplify deletion detection, we have employed...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Meningioma and schwannoma management
• Share to Neuroblastoma Research and Treatments
• Share to Neurofibromatosis and Schwannoma Cases