Concepedia

Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

Ludwine M. Messiaen, Tom Callens, Kyle J. Roux, Geert Mortier, Anne De Paepe, Marc Abramowicz, Margaret A. Pericak‐Vance, Jeffery M. Vance, Margaret R. Wallace

Genetics in Medicine · 1999 · 39 citations · 17 references

DOI

Concepts

References

17

Neurofibromatosis

Archives of Neurology · 1988 · 1.5K citations

, , +11

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen et al. · Science · 1990 · 1.5K citations

, , +10

The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2

David H. Gutmann · JAMA · 1997 · 1.3K citations

, , +14

Neurofibromatosis. Conference statement, National Institute of Health development conference

Da Stumpf · JAMA Neurology · 1988 · 1.2K citations

, , +5

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

Richard Cawthon, Robert B. Weiss, Gangfeng Xu et al. · Cell · 1990 · 1.1K citations

, , +12