Concepedia

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti,

European Journal of Human Genetics · 2014 · 135 citations · 17 references

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References

17

Neurofibromatosis

Archives of Neurology · 1988 · 1.5K citations

, , +11

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

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PubMed · 1988 · 753 citations

, , +9

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems, Magdalena Chmara, Mourad Sahbatou et al. · Nature Genetics · 2007 · 473 citations

, , +10