A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

doi:10.1016/0092-8674(90)90253-b

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Article

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Cell - 13 Jul 1990

Cawthon R M, Weiss R, Xu G F, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P

Abstract excerpt

Overlapping cDNA clones from the translocation breakpoint region (TBR) gene, recently discovered at the neurofibromatosis type 1 locus and found to be interrupted by deletions and a t(17;22) translocation, have been sequenced. A 4 kb sequence of the transcript of the TBR gene has been compared wi...

Topics

Amino Acid Sequence
Base Sequence
Chromosome Deletion
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 22
Cloning, Molecular
Cosmids
DNA
Exons
Genes
Humans
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Neurofibromatosis 1

Oligonucleotide Probes

Polymerase Chain Reaction

Transcription, Genetic

Source

Open in PubMed

Identifiers

PMID: 2114220
DOI: 10.1016/0092-8674(90)90253-b

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2114220-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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