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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.
Taispeáin leaganacha eile (1)
Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:
Steele, A
,
Tribble, N
,
Caswell, R
,
Wensley, K
,
Hattersley, A
,
Gloyn, A
,
Ellard, S
Formáid:
Journal article
Teanga:
English
Foilsithe / Cruthaithe:
2011
Stoc
Cur síos
Leaganacha eile (1)
Míreanna comhchosúla
Amharc foirne
Míreanna comhchosúla
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
de réir: Steele, A, et al.
Foilsithe / Cruthaithe: (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.
de réir: Beer, N, et al.
Foilsithe / Cruthaithe: (2012)
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
de réir: Thomson, K, et al.
Foilsithe / Cruthaithe: (2003)
Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
de réir: Valentinova, L, et al.
Foilsithe / Cruthaithe: (2011)
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
de réir: Christesen, H, et al.
Foilsithe / Cruthaithe: (2008)