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Article

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

JAMA - 17 Nov 1993

MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J

Abstract excerpt

OBJECTIVE: To define the DNA mutation causing neurofibromatosis 2 (NF2), a severe genetic disorder involving the development of multiple nervous system tumors in adulthood, in a large, well-studied NF2 pedigree previously used to chromosomally map and to isolate the disease gene. DESIGN: Single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the NF2 gene amplified from affected and...

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Source

Identifiers

PMID: 8230593
DOI: 10.1001/jama.270.19.2316

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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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