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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism
ABCC8 encodes a subunit of the β-cell potassium channel (K(ATP)) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two recessive mutations of ABCC8 typically have severe diffuse forms of CHI unresponsive to diazoxide. Some dominant ABCC8 mutations are responsi...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4229485/ https://ncbi.nlm.nih.gov/pubmed/24814349 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12428 |
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