FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3088395921> ?p ?o ?g. }

• W3088395921 endingPage "72" @default.
• W3088395921 startingPage "65" @default.
• W3088395921 abstract "Genetic inheritance plays key roles in patients with ataxia and/or spastic paraplegia in consanguineous families. This study aims to clarify the genetic spectrum of patients with autosomal recessive hereditary ataxia and spastic paraplegias (AR-HA/HSPs) in consanguineous families.A total of 36 AR-HA/HSPs consanguineous pedigrees from China were recruited into this study. Next generation sequencing (NGS), guided by homozygosity mapping (HM), was applied to identify the pathogenic variants in known genes or novel candidate genes.We totally made molecular diagnosis in 47.2% (17/36) of AR-HA/HSPs families. Among them, 13 AR-HAs carried pathogenic variants in SETX (n = 4), SACS (n = 2), STUB1, HSD17B4, NEU1, ADCK3, TPP1, PLA2G6 and MTCL1, while four AR-HSPs carried pathogenic variants in SPG11, ZFYVE26, ATP13A2 and ABCD1. One homozygous nonsense mutation in MRPS27 was identified in an AR-HA family, which was potentially a novel candidate gene of AR-HA.HM and NGS can serve as an efficient molecular diagnostic tool for AR-HA/HSPs in consanguineous families. Our findings provide a better understanding of genetic architecture of AR-HA/HSPs in consanguinity and broaden the clinical-genetic spectrum of the disease." @default.
• W3088395921 created "2020-10-01" @default.
• W3088395921 creator A5010229749 @default.
• W3088395921 creator A5011164088 @default.
• W3088395921 creator A5012834626 @default.
• W3088395921 creator A5019924367 @default.
• W3088395921 creator A5023140496 @default.
• W3088395921 creator A5035275013 @default.
• W3088395921 creator A5043874023 @default.
• W3088395921 creator A5063858269 @default.
• W3088395921 creator A5072707900 @default.
• W3088395921 creator A5074544812 @default.
• W3088395921 creator A5087272196 @default.
• W3088395921 date "2020-11-01" @default.
• W3088395921 modified "2023-10-01" @default.
• W3088395921 title "Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families" @default.
• W3088395921 cites W1763290912 @default.
• W3088395921 cites W1973054976 @default.
• W3088395921 cites W1980461568 @default.
• W3088395921 cites W2000809303 @default.
• W3088395921 cites W2006430824 @default.
• W3088395921 cites W2022372816 @default.
• W3088395921 cites W2064799109 @default.
• W3088395921 cites W2119041052 @default.
• W3088395921 cites W2130121551 @default.
• W3088395921 cites W2227136604 @default.
• W3088395921 cites W2266150566 @default.
• W3088395921 cites W2310823434 @default.
• W3088395921 cites W2397611415 @default.
• W3088395921 cites W2523698005 @default.
• W3088395921 cites W2552561945 @default.
• W3088395921 cites W2593351621 @default.
• W3088395921 cites W2775665119 @default.
• W3088395921 cites W2790232193 @default.
• W3088395921 cites W2845998773 @default.
• W3088395921 cites W2899200386 @default.
• W3088395921 cites W2904564319 @default.
• W3088395921 cites W2916319045 @default.
• W3088395921 cites W2922049261 @default.
• W3088395921 cites W2954449038 @default.
• W3088395921 doi "https://doi.org/10.1016/j.parkreldis.2020.09.013" @default.
• W3088395921 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32961396" @default.
• W3088395921 hasPublicationYear "2020" @default.
• W3088395921 type Work @default.
• W3088395921 sameAs 3088395921 @default.
• W3088395921 citedByCount "10" @default.
• W3088395921 countsByYear W30883959212021 @default.
• W3088395921 countsByYear W30883959212022 @default.
• W3088395921 countsByYear W30883959212023 @default.
• W3088395921 crossrefType "journal-article" @default.
• W3088395921 hasAuthorship W3088395921A5010229749 @default.
• W3088395921 hasAuthorship W3088395921A5011164088 @default.
• W3088395921 hasAuthorship W3088395921A5012834626 @default.
• W3088395921 hasAuthorship W3088395921A5019924367 @default.
• W3088395921 hasAuthorship W3088395921A5023140496 @default.
• W3088395921 hasAuthorship W3088395921A5035275013 @default.
• W3088395921 hasAuthorship W3088395921A5043874023 @default.
• W3088395921 hasAuthorship W3088395921A5063858269 @default.
• W3088395921 hasAuthorship W3088395921A5072707900 @default.
• W3088395921 hasAuthorship W3088395921A5074544812 @default.
• W3088395921 hasAuthorship W3088395921A5087272196 @default.
• W3088395921 hasConcept C104317684 @default.
• W3088395921 hasConcept C127716648 @default.
• W3088395921 hasConcept C130895681 @default.
• W3088395921 hasConcept C16671776 @default.
• W3088395921 hasConcept C169760540 @default.
• W3088395921 hasConcept C22593422 @default.
• W3088395921 hasConcept C2779923321 @default.
• W3088395921 hasConcept C2780395223 @default.
• W3088395921 hasConcept C2780906641 @default.
• W3088395921 hasConcept C501734568 @default.
• W3088395921 hasConcept C54355233 @default.
• W3088395921 hasConcept C64618202 @default.
• W3088395921 hasConcept C69991583 @default.
• W3088395921 hasConcept C80227256 @default.
• W3088395921 hasConcept C86803240 @default.
• W3088395921 hasConceptScore W3088395921C104317684 @default.
• W3088395921 hasConceptScore W3088395921C127716648 @default.
• W3088395921 hasConceptScore W3088395921C130895681 @default.
• W3088395921 hasConceptScore W3088395921C16671776 @default.
• W3088395921 hasConceptScore W3088395921C169760540 @default.
• W3088395921 hasConceptScore W3088395921C22593422 @default.
• W3088395921 hasConceptScore W3088395921C2779923321 @default.
• W3088395921 hasConceptScore W3088395921C2780395223 @default.
• W3088395921 hasConceptScore W3088395921C2780906641 @default.
• W3088395921 hasConceptScore W3088395921C501734568 @default.
• W3088395921 hasConceptScore W3088395921C54355233 @default.
• W3088395921 hasConceptScore W3088395921C64618202 @default.
• W3088395921 hasConceptScore W3088395921C69991583 @default.
• W3088395921 hasConceptScore W3088395921C80227256 @default.
• W3088395921 hasConceptScore W3088395921C86803240 @default.
• W3088395921 hasFunder F4320321001 @default.
• W3088395921 hasLocation W30883959211 @default.
• W3088395921 hasLocation W30883959212 @default.
• W3088395921 hasOpenAccess W3088395921 @default.
• W3088395921 hasPrimaryLocation W30883959211 @default.
• W3088395921 hasRelatedWork W1911091815 @default.
• W3088395921 hasRelatedWork W1964573065 @default.

• next