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Article

Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jun 1993

Vivarelli R, Bartalani G, Berardi A, Calistri L, Balestri P, Fois A

Abstract excerpt

This study reports the results of a linkage analysis in nine families with members who had neurofibromatosis type 1 (NF1), using five restriction fragment length polymorphisms (RFLPs) tightly linked to the NF1 locus. The purpose of this analysis was to determine whether the at-risk individuals were carrying the NF1 allele and whether the nine families would be informative for prenatal testing. The families...

Topics

Adult
Child
Child, Preschool
Chromosome Mapping
Female
Genes, Neurofibromatosis 1
Genetic Carrier Screening
Genetic Linkage
Genetic Markers
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Neurofibromatosis 1

Pedigree

Polymorphism, Restriction Fragment Length

Risk Factors

Source

Identifiers

PMID: 8104099
DOI: 10.1007/BF00272264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8104099-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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