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Article

Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus.

Neurology - 14 Mar 2000

Sainio M, Jääskeläinen J, Pihlaja H, Carpén O

Abstract excerpt

OBJECTIVE: To understand molecular details of the pathogenesis of a very mild and homogenous form of neurofibromatosis 2 (NF2). BACKGROUND: Inactivation of the NF2 tumor suppressor gene leads to the development of multiple nervous system tumors, accompanied by loss of the NF2 gene product, merlin, or schwannomin. The severity of disease varies between patients, and the biologic basis of this variation is poorly...

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PMID: 10720287
DOI: 10.1212/wnl.54.5.1132

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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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