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Case series of HbQ-India, a rare alpha globin variant in a referral laboratory setting in South India

HbQ variants are rare alpha globin chain variants commonly found in Sindhi community. It results from a point mutation of α-1 globin gene at position 223 of the coding region of exon 64. It is inherited in an autosomal dominant fashion. HbQ-India is usually clinically silent in heterozygous state un...

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Библиографические подробности
Главные авторы: Ayeesha Shaik, Sreeja T Thekkelakayil, Vijay Kumawat, Anurag Gupta, Manu Goyal
Формат: Artigo
Язык:Inglês
Опубликовано: Wolters Kluwer Medknow Publications 2020-01-01
Серии:Indian Journal of Pathology and Microbiology
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Online-ссылка:http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2020;volume=63;issue=3;spage=481;epage=484;aulast=Shaik
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