Concepedia

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

M. Carmen Valero, Yolanda Martín, Elisabete Hernández-Imaz, Alba Hernández, Germán Melean, Ana María Valero, Francisco Javier Álvarez Rodríguez, Dolores Tellerı́a, Concepción Hernández-Chico

Journal of Molecular Diagnostics · 2011 · 119 citations · 42 references

DOIFull text

Open access

Concepts

References

42

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

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

David Viskochil, Arthur M. Buchberg, Gangfeng Xu et al. · Cell · 1990 · 1.1K citations

, , +8

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

George A. Martin, David Viskoohil, Gideon Bollag et al. · Cell · 1990 · 1K citations

, , +14

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

Roymarie Ballester, Douglas A. Marchuk, Mark S. Boguski et al. · Cell · 1990 · 861 citations · Full text

, , +7

Neurofibromatosis, Phenotype, Natural History, and Pathogenesis

Vincent M. Riccardi, James G. Smirniotopoulos · Journal of Neuropathology & Experimental Neurology · 1992 · 795 citations · Full text

, , +12