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Article

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

Human molecular genetics - 1 Jun 1995

Heim R A, Kam-Morgan L N, Binnie C G, Corns D D, Cayouette M C, Farber R A, Aylsworth A S, Silverman L M, Luce M C

Abstract excerpt

Neurofibromatosis 1 (NF1) is a common genetic disorder characterized by abnormalities of tissues derived from the neural crest. To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed clinically and one patient with only café-au-lait spots and no other diagnostic criteria. A protein truncation assay identified abnormal polypeptides synthesized in...

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PMID: 7655472
DOI: 10.1093/hmg/4.6.975

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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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