Matches in SemOpenAlex for { <https://semopenalex.org/work/W4307748141> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W4307748141 endingPage "2351" @default.
- W4307748141 startingPage "2345" @default.
- W4307748141 abstract "Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation.To identify pathogenic mutation of the NF1 gene in a pedigree of NF1.Collection of clinical data from one NF1 family. Peripheral blood samples were collected from the affected persons and their family members. Potential mutations of NF1 gene were screened by exome and cDNA sequencing.A splice mutation (c.4836-10T>G) was found in exon 37 of the NF1 gene in this NFI family, and no corresponding mutation was found in healthy members of this pedigree or in the human reference genome (GRCh37/hg19).Mutations of NF1 gene is a major cause of NF1. The novel splice mutation in exon 37 of NF1 gene is the underlying cause of the familial c.4836-10T>G." @default.
- W4307748141 created "2022-11-05" @default.
- W4307748141 creator A5024778679 @default.
- W4307748141 creator A5026582960 @default.
- W4307748141 creator A5031518241 @default.
- W4307748141 creator A5034235670 @default.
- W4307748141 creator A5034965764 @default.
- W4307748141 creator A5056010319 @default.
- W4307748141 creator A5077066775 @default.
- W4307748141 date "2022-10-01" @default.
- W4307748141 modified "2023-10-15" @default.
- W4307748141 title "NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series" @default.
- W4307748141 cites W1559883839 @default.
- W4307748141 cites W1605698134 @default.
- W4307748141 cites W1987186315 @default.
- W4307748141 cites W1997887695 @default.
- W4307748141 cites W2010105281 @default.
- W4307748141 cites W2022971724 @default.
- W4307748141 cites W2030335925 @default.
- W4307748141 cites W2115256241 @default.
- W4307748141 cites W2137888858 @default.
- W4307748141 cites W2161546011 @default.
- W4307748141 cites W2170029524 @default.
- W4307748141 cites W2538251049 @default.
- W4307748141 cites W2562478593 @default.
- W4307748141 cites W2778962293 @default.
- W4307748141 cites W2979328224 @default.
- W4307748141 cites W2980433900 @default.
- W4307748141 cites W3163203868 @default.
- W4307748141 cites W4200036275 @default.
- W4307748141 cites W4220668136 @default.
- W4307748141 doi "https://doi.org/10.2147/ccid.s388045" @default.
- W4307748141 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36339945" @default.
- W4307748141 hasPublicationYear "2022" @default.
- W4307748141 type Work @default.
- W4307748141 citedByCount "0" @default.
- W4307748141 crossrefType "journal-article" @default.
- W4307748141 hasAuthorship W4307748141A5024778679 @default.
- W4307748141 hasAuthorship W4307748141A5026582960 @default.
- W4307748141 hasAuthorship W4307748141A5031518241 @default.
- W4307748141 hasAuthorship W4307748141A5034235670 @default.
- W4307748141 hasAuthorship W4307748141A5034965764 @default.
- W4307748141 hasAuthorship W4307748141A5056010319 @default.
- W4307748141 hasAuthorship W4307748141A5077066775 @default.
- W4307748141 hasBestOaLocation W43077481411 @default.
- W4307748141 hasConcept C104317684 @default.
- W4307748141 hasConcept C16671776 @default.
- W4307748141 hasConcept C194583182 @default.
- W4307748141 hasConcept C2778984943 @default.
- W4307748141 hasConcept C36823959 @default.
- W4307748141 hasConcept C501734568 @default.
- W4307748141 hasConcept C54355233 @default.
- W4307748141 hasConcept C54458228 @default.
- W4307748141 hasConcept C62257209 @default.
- W4307748141 hasConcept C67705224 @default.
- W4307748141 hasConcept C86803240 @default.
- W4307748141 hasConceptScore W4307748141C104317684 @default.
- W4307748141 hasConceptScore W4307748141C16671776 @default.
- W4307748141 hasConceptScore W4307748141C194583182 @default.
- W4307748141 hasConceptScore W4307748141C2778984943 @default.
- W4307748141 hasConceptScore W4307748141C36823959 @default.
- W4307748141 hasConceptScore W4307748141C501734568 @default.
- W4307748141 hasConceptScore W4307748141C54355233 @default.
- W4307748141 hasConceptScore W4307748141C54458228 @default.
- W4307748141 hasConceptScore W4307748141C62257209 @default.
- W4307748141 hasConceptScore W4307748141C67705224 @default.
- W4307748141 hasConceptScore W4307748141C86803240 @default.
- W4307748141 hasLocation W43077481411 @default.
- W4307748141 hasLocation W43077481412 @default.
- W4307748141 hasLocation W43077481413 @default.
- W4307748141 hasLocation W43077481414 @default.
- W4307748141 hasOpenAccess W4307748141 @default.
- W4307748141 hasPrimaryLocation W43077481411 @default.
- W4307748141 hasRelatedWork W1975279309 @default.
- W4307748141 hasRelatedWork W2015997769 @default.
- W4307748141 hasRelatedWork W2045514639 @default.
- W4307748141 hasRelatedWork W2070620312 @default.
- W4307748141 hasRelatedWork W2075503019 @default.
- W4307748141 hasRelatedWork W2113777285 @default.
- W4307748141 hasRelatedWork W2733300197 @default.
- W4307748141 hasRelatedWork W2885487377 @default.
- W4307748141 hasRelatedWork W4235910810 @default.
- W4307748141 hasRelatedWork W4251982688 @default.
- W4307748141 hasVolume "Volume 15" @default.
- W4307748141 isParatext "false" @default.
- W4307748141 isRetracted "false" @default.
- W4307748141 workType "article" @default.