RNA processing and clinical variability in neurofibromatosis type I (NF1)
about
C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzymeAberrant caspase-activated DNase (CAD) transcripts in human hepatoma cellsAlternative splicing of the neurofibromatosis type I pre-mRNAToward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersCold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNATwo pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.Neurofibromatosis type 1 growth charts.
P2860
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P2860
RNA processing and clinical variability in neurofibromatosis type I (NF1)
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@ast
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@en
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@nl
type
label
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@ast
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@en
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@nl
prefLabel
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@ast
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@en
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@nl
P356
P1476
RNA processing and clinical variability in neurofibromatosis type I (NF1)
@en
P2093
A J Cappione
P304
P356
10.1093/HMG/6.10.1707
P407
P577
1997-01-01T00:00:00Z