Concepedia

Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family

Peng Yi, Yu Fang, Shengwei Huang, Cunli Zhong, Qiang Li, Yuan Yang, Wenqing Zhang, Chenglin Xiao, Xiangmin Xu

Blood Cells Molecules and Diseases · 2008 · 17 citations · 15 references

DOI

Concepts

References

15

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

Marilyn Kozak · Cell · 1986 · 4.9K citations

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Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia

Samuel S. Chong, Corinne D. Boehm, Douglas R. Higgs et al. · Blood · 2000 · 470 citations

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The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening

Xiaoyan Xu, Yuqiu Zhou, Gaoxing Luo et al. · Journal of Clinical Pathology · 2004 · 328 citations · Full text

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Evidence that translation reinitiation abrogates nonsense‐mediated mRNA decay in mammalian cells

Jing Zhang, Lynne E. Maquat · The EMBO Journal · 1997 · 189 citations · Full text

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Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation

Luı́sa Romão, Ângela Inácio, Susana Constantino Rosa Santos et al. · Blood · 2000 · 92 citations

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