Literature DB >> 1293177

The neurofibromatosis type 1 (NF1) gene: identification and partial characterization of a putative tumor suppressor gene.

P O'Connell1, R Cawthon, G F Xu, Y Li, D Viskochil, R White.   

Abstract

The NF1 gene has been isolated and partially characterized. The discovery that NF1 functions as a ras GTPase activator protein has led to new opportunities for understanding the pathology of this disease. The approximately 11 kilobase (kb) NF1 consensus cDNA sequence contains an open reading frame encoding a peptide of 2818 amino acids. DNA blot and polymerase chain reaction analysis indicate that the NF1 gene consists of over 50 exons spanning 300 kb of chromosome 17.

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Year:  1992        PMID: 1293177     DOI: 10.1111/j.1346-8138.1992.tb03799.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  2 in total

Review 1.  The NF1 gene in tumor syndromes and melanoma.

Authors:  Maija Kiuru; Klaus J Busam
Journal:  Lab Invest       Date:  2017-01-09       Impact factor: 5.662

2.  Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1.

Authors:  R N Vianna; D F Pacheco; M M Vasconcelos; J J de Laey
Journal:  Int Ophthalmol       Date:  2001       Impact factor: 2.031

  2 in total

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