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...
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