Abstract:
:Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with data of the heterozygous parents.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Aliyeva G,Asadov C,Mammadova T,Musayev S,Abdulalimov E,Gafarova S,Guliyeva Ydoi
10.1080/03630269.2018.1528987subject
Has Abstractpub_date
2018-07-01 00:00:00pages
276-277issue
4eissn
0363-0269issn
1532-432Xjournal_volume
42pub_type
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