| Full text | |
| Author(s): Show less - |
Weinert, Leticia S.
[1]
;
Silveiro, Sandra P.
[1]
;
Giuffrida, Fernando M. A.
[2, 3]
;
Cunha, Vivian T.
[1]
;
Bulcao, Caroline
[2]
;
Calliari, Luis Eduardo
[4]
;
Della Manna, Thais
[5]
;
Kunii, Ilda S.
[6]
;
Dotto, Renata P.
[6]
;
Dias-da-Silva, Magnus R.
[6]
;
Reis, Andre F.
[6, 7]
Total Authors: 11
|
| Affiliation: | [1] Univ Fed Rio Grande Sul UFRGS, Postgrad Fellowship Program Endocrinol, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS - Brazil
[2] Ctr Endocrinol Estado Bahia CEDEBA, Salvador, BA - Brazil
[3] Univ Estado Bahia UNEB, Salvador, BA - Brazil
[4] Santa Casa Misericordia, Pediat Endocrinol Unit, Sao Paulo - Brazil
[5] Univ Sao Paulo, Hosp Clin, Inst Crianca, BR-05508 Sao Paulo - Brazil
[6] Univ Fed Sao Paulo UNIFESP, Lab Mol & Translac Endocrinol, BR-04022001 Sao Paulo - Brazil
[7] Univ Fed Sao Paulo UNIFESP, Ctr Diabet, BR-04022001 Sao Paulo - Brazil
Total Affiliations: 7
|
| Document type: | Journal article |
| Source: | Diabetes Research and Clinical Practice; v. 106, n. 2, p. E44-E48, NOV 2014. |
| Web of Science Citations: | 5 |
| Abstract | |
Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families. (C) 2014 Elsevier Ireland Ltd. All rights reserved. (AU) | |
| 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 |