17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference27 articles.
1. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene
2. A new disease-causing mutation in the GAP-related domain of the NF1 gene
3. Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
4. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
5. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1;European Journal of Human Genetics;2022-07-26
2. The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations;Neurofibromatosis Type 1;2012
3. Do NF1 gene deletions result in a characteristic phenotype?;American Journal of Medical Genetics;1997-11-28
4. The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions;Human Genetics;1997-01-27
5. Deletion of the entireNF1 gene detected by FISH: Four deletion patients associated with severe manifestations;American Journal of Medical Genetics;1995-12-04
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