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Article

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

20 May 2011

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21604084
DOI: 10.1007/s00125-011-2194-5

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODYPMID 21604084Read ↗

A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype.Semantic proximity Read ↗

A new de novo mutation in the GCK gene causing MODY2.Semantic proximity Read ↗

Identification of a novel glucokinase mutation in an Indian woman with GCK-MODY.Semantic proximity Read ↗

Mutations in the SLC30A8 gene are not a major cause of MODY or other forms of early-onset, autosomal dominant type 2 diabetes.Semantic proximity Read ↗

Ancestral mutations may cause a significant proportion of GCK-MODY.Semantic proximity Read ↗

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.Semantic proximity Read ↗

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.Semantic proximity Read ↗

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controlsSemantic proximity Read ↗

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.Semantic proximity Read ↗

Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.Semantic proximity Read ↗

The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.Semantic proximity Read ↗

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