A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

The neurofibromatosis type 1 gene encodes a protein related to GAP

Gangfeng Xu, P. O’Connell, David Viskochil et al. · Cell · 1990 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +12

Genomic organization of the neurofibromatosis 1 gene (NF1)

Y Li, Peter O'Connell, Heidi Huntsman Breidenbach et al. · Genomics · 1995 · 234 citations

Life Sciences, Genetics, Molecular Genetics +5

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

V M Park, E K Pivnick · Journal of Medical Genetics · 1998 · 85 citations · Full text

Life Sciences, Molecular Medicine, Genetic Counseling +7

The neurofibromatosis type 1 gene encodes a protein related to GAP

Trends in Genetics · 1990 · 55 citations

Medicine, Genetics, Molecular Genetics +12