Article
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation - 1 Jan 1997
Abernathy C R, Rasmussen S A, Stalker H J, Zori R, Driscoll D J, Williams C A, Kousseff B G, Wallace M R
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized predominantly by neurofibromas, café-au-lait spots, and Lisch nodules. The disease is caused by disruptive mutations of the large NF1 gene, with half of cases caused by new mutation. Less than 100 constitutional mutations have thus far been published, ranging from very large deletions to point mutations. We have pursued NF1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.