Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

doi:10.1016/0092-8674(90)90252-a

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Article

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Cell - 13 Jul 1990

Viskochil D, Buchberg A M, Xu G, Cawthon R M, Stevens J, Wolff R K, Culver M, Carey J C, Copeland N G, Jenkins N A

Abstract excerpt

Three new neurofibromatosis type 1 (NF1) mutations have been detected and characterized. Pulsed-field gel and Southern blot analyses reveal the mutations to be deletions of 190, 40, and 11 kb of DNA. The 11 kb deletion does not contain any of the previously characterized genes that lie between two NF1 translocation breakpoints, but it does include a portion of a rodent/human conserved DNA sequence previously...

Topics

Adult
Base Sequence
Blotting, Northern
Blotting, Southern
Cell Line
Chromosome Deletion
Chromosomes, Human, Pair 17
Cloning, Molecular
DNA
Gene Library
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Neurofibromatosis 1

Oligonucleotide Probes

Polymerase Chain Reaction

RNA

Source

Open in PubMed

Identifiers

PMID: 1694727
DOI: 10.1016/0092-8674(90)90252-a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1694727-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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