FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4247667199> ?p ?o ?g. }

• W4247667199 endingPage "536" @default.
• W4247667199 startingPage "536" @default.
• W4247667199 abstract "(The American Journal of Human Genetics 85, 155–167; August 2009) An error during the printing process resulted in an incomplete version of Figure 1B in this paper. The correct panel (and legend) appears below. The online version was not affected. AJHG sincerely regrets the error. Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse FunctionHuzé et al.The American Journal of Human GeneticsJuly 23, 2009In BriefWe report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene analysis identified a homozygous missense mutation, c.5125G>C, leading to the p.Gly1709Arg variant. The muscle-biopsy specimen showed a major disorganization of the neuromuscular junction, including changes in the nerve-terminal cytoskeleton and fragmentation of the synaptic gutters. Full-Text PDF Open Archive" @default.
• W4247667199 created "2022-05-12" @default.
• W4247667199 creator A5000205663 @default.
• W4247667199 creator A5002949791 @default.
• W4247667199 creator A5004315257 @default.
• W4247667199 creator A5007546716 @default.
• W4247667199 creator A5007583574 @default.
• W4247667199 creator A5012409878 @default.
• W4247667199 creator A5015484141 @default.
• W4247667199 creator A5032349606 @default.
• W4247667199 creator A5032536875 @default.
• W4247667199 creator A5033398134 @default.
• W4247667199 creator A5037945550 @default.
• W4247667199 creator A5037983714 @default.
• W4247667199 creator A5040562294 @default.
• W4247667199 creator A5051948859 @default.
• W4247667199 creator A5055873476 @default.
• W4247667199 creator A5057324753 @default.
• W4247667199 creator A5072296452 @default.
• W4247667199 creator A5074248686 @default.
• W4247667199 creator A5074863838 @default.
• W4247667199 creator A5077640627 @default.
• W4247667199 creator A5080348524 @default.
• W4247667199 creator A5089649845 @default.
• W4247667199 date "2009-10-01" @default.
• W4247667199 modified "2023-09-27" @default.
• W4247667199 title "Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function" @default.
• W4247667199 doi "https://doi.org/10.1016/j.ajhg.2009.09.010" @default.
• W4247667199 hasPublicationYear "2009" @default.
• W4247667199 type Work @default.
• W4247667199 citedByCount "4" @default.
• W4247667199 countsByYear W42476671992018 @default.
• W4247667199 countsByYear W42476671992019 @default.
• W4247667199 countsByYear W42476671992021 @default.
• W4247667199 crossrefType "journal-article" @default.
• W4247667199 hasAuthorship W4247667199A5000205663 @default.
• W4247667199 hasAuthorship W4247667199A5002949791 @default.
• W4247667199 hasAuthorship W4247667199A5004315257 @default.
• W4247667199 hasAuthorship W4247667199A5007546716 @default.
• W4247667199 hasAuthorship W4247667199A5007583574 @default.
• W4247667199 hasAuthorship W4247667199A5012409878 @default.
• W4247667199 hasAuthorship W4247667199A5015484141 @default.
• W4247667199 hasAuthorship W4247667199A5032349606 @default.
• W4247667199 hasAuthorship W4247667199A5032536875 @default.
• W4247667199 hasAuthorship W4247667199A5033398134 @default.
• W4247667199 hasAuthorship W4247667199A5037945550 @default.
• W4247667199 hasAuthorship W4247667199A5037983714 @default.
• W4247667199 hasAuthorship W4247667199A5040562294 @default.
• W4247667199 hasAuthorship W4247667199A5051948859 @default.
• W4247667199 hasAuthorship W4247667199A5055873476 @default.
• W4247667199 hasAuthorship W4247667199A5057324753 @default.
• W4247667199 hasAuthorship W4247667199A5072296452 @default.
• W4247667199 hasAuthorship W4247667199A5074248686 @default.
• W4247667199 hasAuthorship W4247667199A5074863838 @default.
• W4247667199 hasAuthorship W4247667199A5077640627 @default.
• W4247667199 hasAuthorship W4247667199A5080348524 @default.
• W4247667199 hasAuthorship W4247667199A5089649845 @default.
• W4247667199 hasBestOaLocation W42476671991 @default.
• W4247667199 hasConcept C104317684 @default.
• W4247667199 hasConcept C127445978 @default.
• W4247667199 hasConcept C169760540 @default.
• W4247667199 hasConcept C170493617 @default.
• W4247667199 hasConcept C2777210258 @default.
• W4247667199 hasConcept C2777240379 @default.
• W4247667199 hasConcept C2779024559 @default.
• W4247667199 hasConcept C501734568 @default.
• W4247667199 hasConcept C54355233 @default.
• W4247667199 hasConcept C75563809 @default.
• W4247667199 hasConcept C80161118 @default.
• W4247667199 hasConcept C86803240 @default.
• W4247667199 hasConceptScore W4247667199C104317684 @default.
• W4247667199 hasConceptScore W4247667199C127445978 @default.
• W4247667199 hasConceptScore W4247667199C169760540 @default.
• W4247667199 hasConceptScore W4247667199C170493617 @default.
• W4247667199 hasConceptScore W4247667199C2777210258 @default.
• W4247667199 hasConceptScore W4247667199C2777240379 @default.
• W4247667199 hasConceptScore W4247667199C2779024559 @default.
• W4247667199 hasConceptScore W4247667199C501734568 @default.
• W4247667199 hasConceptScore W4247667199C54355233 @default.
• W4247667199 hasConceptScore W4247667199C75563809 @default.
• W4247667199 hasConceptScore W4247667199C80161118 @default.
• W4247667199 hasConceptScore W4247667199C86803240 @default.
• W4247667199 hasIssue "4" @default.
• W4247667199 hasLocation W42476671991 @default.
• W4247667199 hasLocation W42476671992 @default.
• W4247667199 hasLocation W42476671993 @default.
• W4247667199 hasOpenAccess W4247667199 @default.
• W4247667199 hasPrimaryLocation W42476671991 @default.
• W4247667199 hasRelatedWork W1970981381 @default.
• W4247667199 hasRelatedWork W2017429468 @default.
• W4247667199 hasRelatedWork W2028483418 @default.
• W4247667199 hasRelatedWork W2082745004 @default.
• W4247667199 hasRelatedWork W2113423784 @default.
• W4247667199 hasRelatedWork W2119148360 @default.
• W4247667199 hasRelatedWork W2594731224 @default.
• W4247667199 hasRelatedWork W2975755143 @default.
• W4247667199 hasRelatedWork W3174451709 @default.
• W4247667199 hasRelatedWork W4247667199 @default.

• next