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Article

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

1 Apr 1998

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9529361
DOI: 10.1086/301803

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Related research

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A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 GenePMID 9529361Read ↗

Spinal Neurofibromatosis (SNF): A Variant Phenotype of Neurofibromatosis Type 1 (NF1).Semantic proximity Read ↗

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasSemantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1.Semantic proximity Read ↗

A Case Report of Neurofibromatosis Type 1 Caused by NF1 Gene MutationSemantic proximity Read ↗

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.Semantic proximity Read ↗

Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.Semantic proximity Read ↗

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.Semantic proximity Read ↗

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.Semantic proximity Read ↗

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.Semantic proximity Read ↗

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