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Article

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.

BMC medical genetics - 13 Feb 2018

Mohan Viswanathan, Radha Venkatesan, Nguyen Thong T, Stawiski Eric W, Pahuja Kanika Bajaj, Goldstein Leonard D, Tom Jennifer, Anjana Ranjit Mohan, Kong-Beltran Monica, Bhangale Tushar, Jahnavi Suresh, Chandni Radhakrishnan, Gayathri Vijay, George Paul, Zhang Na, Murugan Sakthivel, Phalke Sameer, Chaudhuri Subhra, Gupta Ravi, Zhang Jingli, Santhosh Sam, Stinson Jeremy, Modrusan Zora, Ramprasad V L, Seshagiri Somasekar, Peterson Andrew S

Abstract excerpt

BACKGROUND: Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. METHODS: In this study, we carried out a comprehensive genomic analysis of 289 individuals...

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Glycated Hemoglobin
Hepatocyte Nuclear Factor 1-alpha

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Proto-Oncogene Proteins c-akt

Regulatory Factor X Transcription Factors

Sulfonylurea Receptors

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PMID: 29439679
DOI: 10.1186/s12881-018-0528-6
PMCID: PMC5811965

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ABCC8
AKT2
WFS1

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