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Article

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.

Human genetics - 1 Aug 1996

Welling D B, Guida M, Goll F, Pearl D K, Glasscock M E, Pappas D G, Linthicum F H, Rogers D, Prior T W

Abstract excerpt

Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have shown that the CpG sites are...

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Identifiers

PMID: 8698340
DOI: 10.1007/s004390050188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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