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Article

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.

American journal of medical genetics - 18 May 1998

Kluwe L, MacCollin M, Tatagiba M, Thomas S, Hazim W, Haase W, Mautner V F

Abstract excerpt

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in the NF2 gene. Patients carrying NF2 mutations are predisposed to cerebral and spinal tumors with bilateral vestibular schwannomas as the hallmark. Using single strand conformation polymorphism and temperature gradient gel electrophoresis analysis, we have screened 87 unrelated NF2 patients for mutations in the NF2 gene. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9605590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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