Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis

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Bibliographic Details
Published in:Blood cells, molecules, & diseases molecules, & diseases, 2018-09, Vol.72, p.19-21
Main Authors: Rani, Neetu, Jamwal, Manu, Kaur, Jasbir, Sharma, Prashant, Malhotra, Pankaj, Maitra, Arindam, Singh, Ranvir, Das, Reena
Format: Article
Language:English
Subjects:
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
European Continental Ancestry Group
High-Throughput Nucleotide Sequencing
Homozygote
Humans
India
Kruppel-Like Transcription Factors - genetics
Mutation, Missense
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ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2018.06.003