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  • The previously reported T342P...
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The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

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Detalhes bibliográficos
Principais autores: Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S
Formato: Journal article
Idioma:English
Publicado em: 2011
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Registros relacionados

  • The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
    por: Steele, A, et al.
    Publicado em: (2011)
  • Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
    por: Beer, N, et al.
    Publicado em: (2012)
  • Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
    por: Thomson, K, et al.
    Publicado em: (2003)
  • Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
    por: Valentinova, L, et al.
    Publicado em: (2011)
  • Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
    por: Christesen, H, et al.
    Publicado em: (2008)

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