Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
about
Neurofibromatosis: chronological history and current issues.The NF1 gene revisited - from bench to bedside.Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLoss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos.Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 GeneNF1 single and multi-exons copy number variations in neurofibromatosis type 1.The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
P2860
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P2860
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Automated comparative sequence ...... t from the GAP related domain.
@ast
Automated comparative sequence ...... t from the GAP related domain.
@en
type
label
Automated comparative sequence ...... t from the GAP related domain.
@ast
Automated comparative sequence ...... t from the GAP related domain.
@en
prefLabel
Automated comparative sequence ...... t from the GAP related domain.
@ast
Automated comparative sequence ...... t from the GAP related domain.
@en
P2093
P356
P1476
Automated comparative sequence ...... ct from the GAP related domain
@en
P2093
C Mattocks
C ffrench-Constant
J Whittaker
P356
10.1136/JMG.2003.011890
P407
P577
2004-04-01T00:00:00Z