cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.

doi:10.1016/0888-7543(91)90410-g

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Article

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.

Genomics - 1 Mar 1991

Cawthon R M, Andersen L B, Buchberg A M, Xu G F, O'Connell P, Viskochil D, Weiss R B, Wallace M R, Marchuk D A, Culver M

Abstract excerpt

The gene responsible for neurofibromatosis type 1 (NF1), one of the more common inherited human disorders, was identified recently, and segments of it were cloned. Two translocation breakpoints that interrupt the NF1 gene in NF1 patients flank a 60-kb segment of DNA that contains the EV12A locus (previously reported as the EV12 locus), the human homolog of a mouse gene, Evi-2A, implicated in retrovirus-induced...

Topics

Amino Acid Sequence
Animals
Base Sequence
Blotting, Southern
Cell Line, Transformed
Chromosome Mapping
Chromosomes, Human, Pair 17
DNA Probes
Exons
Genomic Library
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Mice

Molecular Sequence Data

Mutation

Neurofibromatosis 1

Proto-Oncogenes

Sequence Homology, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 1903357
DOI: 10.1016/0888-7543(91)90410-g

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1903357-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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