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Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia

β-thalassemia is the most common single gene disorder worldwide and in Iran. In the present study we report for the first time a rare variant of hemoglobin HBB:c.82G>T; Codon 27 GCC→TCC (Ala→Ser), Hb Knossos, using sequencing and reverse dot blot hybridization, in members of a family from North I...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Nasouhipur, Hengameh, Banihashemi, Ali, Youssefi Kamangar, Reza, Akhavan-Niaki, Haleh
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer India 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4192188/
https://ncbi.nlm.nih.gov/pubmed/25332589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12288-014-0343-y
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