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Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GCK-MODY). Over 600 GCK mutations have been reported of which ∼65% are missense. In many cases co-segregation has not been established and despite the importance of functional studies in ascribing patho...
Gorde:
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Public Library of Science
2012
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3321013/ https://ncbi.nlm.nih.gov/pubmed/22493702 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0034541 |
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