Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation.

Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C.

Afiliación

Ragoussis V; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
Pagnamenta AT; NIHR Biomedical Research Centre, Oxford, UK.
Haines RL; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK alistair@well.ox.ac.uk.
Giacopuzzi E; NIHR Biomedical Research Centre, Oxford, UK.
McClatchey MA; East Midlands Regional Molecular Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Sampson JR; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
Suri M; NIHR Biomedical Research Centre, Oxford, UK.
Gardham A; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Cobben JM; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Osio D; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Fry AE; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Taylor JC; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.

J Med Genet ; 59(4): 366-369, 2022 04.

Article en En | MEDLINE | ID: mdl-33547136

Asunto(s)

Tubulina (Proteína); Humanos; Mutación; Tubulina (Proteína)/genética

Palabras clave

central nervous system diseases; epilepsy; genetic techniques; germ-line mutation; sequence alignment

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article

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