SLNSW-Mutations in the gene encoding the 3'-5' DNA exon...-TN_cdi_proquest_miscellaneous_762278356

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

Full title: Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

Author/creator: Crow, Y.J, Hayward, B.E, Parmar, R, Robins, P, Leitch, A, Ali, M, Black, D.N, Bokhoven, J.H.L.M. van, Brunner, H.G, Hamel, B.C.J, Corry, P.C, Cowan, F.M, Frints, S.G, Klepper, J, Livingston, J.H, Lynch, S.A, Massey, R.F, Meritet, J.F, Michaud, J.L, Ponsot, G, Voit, T, Lebon, P, Bonthron, D.T, Jackson, A.P, Barnes, D.E, Lindahl, T.

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Record Identifier: TN_cdi_proquest_miscellaneous_762278356

Language: English

Formats: Articles

Publishers: London: Nature Publishing Group

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762278356

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    Record title

    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

    Record identifier

    TN_cdi_proquest_miscellaneous_762278356

    Record permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762278356

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    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762278356

    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

    Full title

    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus

    Author / Creator

    Crow, Y.J ; Hayward, B.E ; Parmar, R ; Robins, P ; Leitch, A ; Ali, M ; Black, D.N ; Bokhoven, J.H.L.M. van ; Brunner, H.G ; Hamel, B.C.J ; Corry, P.C ; Cowan, F.M ; Frints, S.G ; Klepper, J ; Livingston, J.H ; Lynch, S.A ; Massey, R.F ; Meritet, J.F ; Michaud, J.L ; Ponsot, G ; Voit, T ; Lebon, P ; Bonthron, D.T ; Jackson, A.P ; Barnes, D.E ; Lindahl, T

    Publisher

    London: Nature Publishing Group

    Journal title

    Nature genetics, 2006, Vol.38 (8), p.917-20

    Record Identifier

    TN_cdi_proquest_miscellaneous_762278356

    Language

    English

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    Articles

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    Aicardi syndrome Animals Base Sequence Biological and medical sciences Complications and side effects Deoxyribonucleic acid DNA DNA - genetics Exodeoxyribonucleases - deficiency Exodeoxyribonucleases - genetics Exonucleases Fundamental and applied biological sciences. Psychology Gene mutations Genetic aspects Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Heredodegenerative Disorders, Nervous System - enzymology Heredodegenerative Disorders, Nervous System - genetics Heredodegenerative Disorders, Nervous System - immunology Humans Immunity, Innate Immunology Malformations of the nervous system Medical sciences Mice Mice, Knockout Molecular Sequence Data Mutation Neurological disorders Neurology Phosphoproteins - deficiency Phosphoproteins - genetics Physiological aspects Proteins - genetics Risk factors Rodents Syndrome

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    TN_cdi_proquest_miscellaneous_762278356

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762278356

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