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| Identification and Functional Characterization of P159L Mutation in |
| Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Park |
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Genomics Inform. 2014;12(4):240-246. Published online December 31, 2014 DOI: https://doi.org/10.5808/GI.2014.12.4.240 |
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Identification and Functional Characterization of P159L Mutation inHNF1Bin a Family with Maturity-Onset Diabetes of the Young 5 (MODY5) Genomics & Informatics. 2014;12(4):240  1658-P: A Novel Mutation in Hepatocyte Nuclear Factor-1 Beta (HNF1B) in Maturity-Onset Diabetes of the Young 5 (MODY5) Diabetes. 2020;69(Supplement_1): Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center Diabetology & Metabolic Syndrome. 2023;15(1): A young maturity-onset diabetes of the young type 3 (MODY 3) in a non- HNF 1α-mutation family——case report . 2022; Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review Clinical Diabetes and Endocrinology. 2020;6(1): A Maturity-Onset Diabetes of The Young (MODY) 5 Young Woman With HNF1B Heterozygosity Missing Based On 17q12 Recurrent Deletion Syndrome . 2021; Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A Human Mutation. 2002;20(3):230-231 A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young Acta Paediatrica. 2007;87(8):853-856 HNF1Bdeletions in patients with young-onset diabetes but no known renal disease Diabetic Medicine. 2012;30(1):114-117 R127W in HNF4? is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family Diabetologia. 2000;43(9):1203-1203 |
