A homozygous KLF1 gene mutation presenting as mild Thalassemia Intermedia unraveled by targeted Next Generation Sequencing

A homozygous KLF1 gene mutation presenting as mild Thalassemia Intermedia unraveled by targeted Next Generation Sequencing

The krupple-like factor 1 (KLF1) is a crucial transcription factor that is responsible for the proper maturation of the erythroid cells. Recent studies have demonstrated that mutations in KLF1 gene may lead to increased fetal hemoglobin (HbF) and reduced or borderline hemoglobin A2 (HbA2) levels. In...

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Bibliographic Details
Main Authors: Neetu Rani, Manu Jamwal, Jasbir Kaur, Pankaj Malhotra, Prashant Sharma, Arindam Maitra, Ranvir Singh, Subhash Varma, Reena Das
Format: Article
Language:English
Published: Science Planet Inc. 2017-10-01
Series:Canadian Journal of Biotechnology
Online Access:https://www.canadianjbiotech.com/CAN_J_BIOTECH/Archives/v1/Special Issue/cjb.2017-a72.pdf

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