Open AccessComprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population
Author(s) -
Ibrar Rafique,
Asif Mir,
Shajee Ahmed Siddiqui,
Muhammad Saqib,
Asher Fawwad,
Luc Marchand,
Muhammad Adnan,
Muhammad Naeem,
Abdul Basit,
Constantin Polychronakos
Publication year - 2021
Publication title -
world journal of diabetes
Language(s) - English
Resource type - Journals
ISSN - 1948-9358
DOI - 10.4239/wjd.v12.i11.1957
Subject(s) - hnf1a , maturity onset diabetes of the young , population , medicine , genetics , exome sequencing , diabetes mellitus , missense mutation , hnf1b , genetic testing , gene , type 2 diabetes , biology , mutation , endocrinology , homeobox , gene expression , environmental health
Monogenic forms of diabetes (MFD) are single gene disorders. Their diagnosis is challenging, and symptoms overlap with type 1 and type 2 diabetes.