Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
about
Splicing in action: assessing disease causing sequence changesSomatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanomaMutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesDifferential expression of splicing variants of the human caldesmon gene (CALD1) in glioma neovascularization versus normal brain microvasculatureFunctional analysis of splicing mutations in exon 7 of NF1 geneInvestigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2).Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating SplicingInfluence of RNA secondary structure on the pre-mRNA splicing process.Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
P2860
Q24674554-5EF8B98C-DD56-415B-9E07-EB6699B2AD4FQ28141888-2751F530-0B0B-4861-A8D0-8BB8F1A9DF19Q28219544-BB283437-2BBD-44B7-8E7E-73E5486BC66CQ31065769-F1640B8E-E21F-41CB-BCBC-E59D62260268Q33273453-5BEC8DBB-EF30-4550-9E39-3604ED4F1C40Q34032183-0BF3835F-67D9-4B9F-A37C-B88E92A889CAQ34389747-4575EBFF-B09F-4776-8D3F-1AA75D326473Q35824538-E00DDA2C-6BC8-49D5-802E-6962C5ED96FEQ35968217-2F35D6E4-D8BE-408C-9F45-E7E652AA171FQ39814751-FB2EABFE-D790-473F-A7B4-9CA9D7E26CBEQ40649754-F02A44AD-7128-4694-878A-5927DB76606AQ44323928-B92E7376-4356-4538-9DF6-1BBE5E46E269Q45864165-925D1449-76C4-4DAC-996D-40505CC14BF5Q51155448-F55FED32-1816-477E-B7B0-ED738F798ED0Q54414127-557D191C-AA82-421F-9343-BC1D1B3C71E3
P2860
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Nearby stop codons in exons of ...... re disparate splice effectors.
@en
Nearby stop codons in exons of ...... re disparate splice effectors.
@nl
type
label
Nearby stop codons in exons of ...... re disparate splice effectors.
@en
Nearby stop codons in exons of ...... re disparate splice effectors.
@nl
prefLabel
Nearby stop codons in exons of ...... re disparate splice effectors.
@en
Nearby stop codons in exons of ...... re disparate splice effectors.
@nl
P2093
P2860
P356
P1476
Nearby stop codons in exons of ...... re disparate splice effectors.
@en
P2093
Hoffmeyer S
Kaufmann D
Leistner W
Nürnberg P
P2860
P304
P356
10.1086/301715
P407
P577
1998-02-01T00:00:00Z