Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions

scientific article

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/GCC.20876
P932PMC publication ID3142993
P698PubMed publication ID21563229
P5875ResearchGate publication ID51118116

P50authorLan KluweQ86621251
P2093author name stringVictor-F Mautner
Bianca Heinrich
James R Ellis
P2860cites workConsensus sequence ZenQ24683285
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform ExtractionQ25938986
Information analysis of human splice site mutationsQ28280101
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequencesQ29619441
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.Q30502813
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of diseaseQ30502816
Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequencesQ34641214
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.Q34741372
Identification and characterization by antisense oligonucleotides of exon and intron sequences required for splicingQ36669797
Scanning and competition between AGs are involved in 3' splice site selection in mammalian intronsQ36695561
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD geneQ39812803
The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts.Q41477101
Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutationsQ42799155
Screening for germ-line mutations in the NF2 geneQ48075368
Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancersQ48083685
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour typesQ48181670
Information content of individual genetic sequences.Q49947049
Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.Q52407950
Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypesQ71709035
Frequency and distribution of NF2 mutations in schwannomasQ71722035
Phenotypic variability associated with 14 splice-site mutations in the NF2 geneQ74598163
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosisQ77885035
P433issue8
P304page(s)571-584
P577publication date2011-05-11
P1433published inGenes, Chromosomes and CancerQ5532697
P1476titleEffects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions
P478volume50

Reverse relations

cites work (P2860)
Q30274790First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation
Q41830290In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
Q35086962Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

Search more.