Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

doi:10.1111/j.1399-0004.1995.tb03965.x

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Article

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Clinical genetics - 1 Jun 1995

Grifa A, Piemontese M R, Melchionda S, Origone P, Zelante L, Coviello D, Fratta G, Dallapiccola B, Balestrazzi P, Ajmar F

Abstract excerpt

Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. The high mutation rate at the neurofibromatosis type 1 locus results in a wide range of molecular abnormalities. We...

Topics

Alleles
Base Sequence
DNA Mutational Analysis
DNA, Satellite
Exons
Female
Genes, Neurofibromatosis 1
Genetic Variation
Heterozygote
Humans
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Polymorphism, Restriction Fragment Length

Polymorphism, Single-Stranded Conformational

RNA

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 7554359
DOI: 10.1111/j.1399-0004.1995.tb03965.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7554359-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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