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Article

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.

Biochemical and biophysical research communications - 28 Feb 1994

Hatta N, Horiuchi T, Fujita S

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. Here, we report two novel deletion mutations of the NF1 gene from two out of 25 unrelated Japanese NF1 patients. These mutations were detected using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis. Sequencing...

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Identifiers

PMID: 8123014
DOI: 10.1006/bbrc.1994.1215

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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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