A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
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Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencingCauses and consequences of genomic instability in laminopathies: replication stress and interferon response.Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and studies
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A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 December 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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label
A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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A novel somatic mutation achie ...... son-Gilford progeria syndrome.
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Delphine Larrieu
Joan F Brazier
Leslie B Gordon
Martin F Arlt
Peter Chines
Stephen P Jackson
Susan E Campbell
Thomas W Glover
Wendy E Norris
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P304
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10.1136/JMEDGENET-2016-104295
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P577
2016-12-05T00:00:00Z