| Full text | |
| Author(s): |
Dotto, Renata P.
[1]
;
Giuffrida, Fernando M. A.
[2]
;
Franco, Luciana
[1]
;
Mathez, Andreia L. G.
[1]
;
Weinert, Leticia S.
[3]
;
Silveiro, Sandra P.
[3]
;
Sa, Joao R.
[4]
;
Reis, Andre F.
[1]
;
Dias-da-Silva, Magnus R.
[1]
Total Authors: 9
|
| Affiliation: | [1] Univ Fed Sao Paulo UNIFESP, Lab Mol & Translat Endocrinol, BR-04022001 Sao Paulo, SP - Brazil
[2] Univ Estado Bahia UNEB, Salvador, BA - Brazil
[3] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS - Brazil
[4] Univ Fed Sao Paulo UNIFESP, Ctr Diabet, R Estado Israel 639 Vila Mariana, BR-04022001 Sao Paulo, SP - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Diabetes Research and Clinical Practice; v. 116, p. 100-104, JUN 2016. |
| Web of Science Citations: | 4 |
| Abstract | |
Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death. (C) 2016 Elsevier Ireland Ltd. All rights reserved. (AU) | |
| FAPESP's process: | 15/05123-9 - Cardiovascular risk stratification in diabetic patients with MODY |
| Grantee: | André Fernandes Reis |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 11/20747-8 - Clinical, biochemical and molecular investigation of Thyrotoxic periodic paralysis |
| Grantee: | Magnus Régios Dias da Silva |
| Support Opportunities: | Regular Research Grants |