ABCC8 p.Arg285Gln
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PMID: 18662362
[PubMed]
Stoy J et al: "Diagnosis and treatment of neonatal diabetes: a United States experience."
No.
Sentence
Comment
63
In a patient with Down`s syndrome, thyroid dysfunction, and diabetes diagnosed at 18 d of age, we identified a missense mutation in ABCC8, R285Q.
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ABCC8 p.Arg285Gln 18662362:63:139
status: NEW198 Three patients had other autoimmune diseases: celiac disease in one patient and thyroid dysfunction in two patients who also had Down`s syndrome (one of the patients was the carrier of the ABCC8 variant, R285Q).
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ABCC8 p.Arg285Gln 18662362:198:204
status: NEW