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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Dofash, Lein N H; Monahan, Gavin V; Servián-Morilla, Emilia; Rivas, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L; Davis, Mark R; Beilharz, Traude; Laing, Nigel G; Cabrera-Serrano, Macarena; Ravenscroft, Gianina.
Afiliação
  • Dofash LNH; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Monahan GV; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, Bentley, WA 6102, Australia.
  • Servián-Morilla E; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Rivas E; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/Consejo Superior de Investigaciones Científicas/Universidad de Sevilla, Sevilla 41013, Spain.
  • Faiz F; Department of Pathology, Hospital Universitario Virgen del Rocío Sevilla, Sevilla 41013, Spain.
  • Sullivan P; Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia.
  • Oates E; Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW 2052, Australia.
  • Clayton J; School of Biotechnology & Biomolecular Sciences, The University of New South Wales, Sydney, NSW 2033, Australia.
  • Taylor RL; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Davis MR; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Beilharz T; Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia.
  • Laing NG; Development and Stem Cells Program, Department of Biochemistry & Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton 3800 Victoria, Australia.
  • Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Ravenscroft G; Department of Neurology, Neuromuscular Unit and Instituto de Biomedicina de Sevilla/CSIC, Hospital Universitario Virgen del Rocío, Sevilla 41013, Spain.
Hum Mol Genet ; 32(7): 1127-1136, 2023 03 20.
Article em En | MEDLINE | ID: mdl-36322148
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Contratura Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Contratura Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália