High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference44 articles.
1. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs;Abeysinghe;Hum Mutat,2003
2. Mutational mechanisms of Williams-Beuren syndrome deletions;Bayes;Am J Hum Genet,2003
3. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2;Bi;Am J Hum Genet,2003
4. Long-term potentiation in mice lacking the neural cell adhesion molecule L1;Bliss;Curr Biol,2000
5. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17;Chance;Hum Mol Genet,1994
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