Hb Nakano [β8(Lys→Met]: A New β Chain Variant Fd in A Japanese Woman

Background: A self-catalytic depurination sequence centered at codon 6 in the ␤-globin gene creates a mutagenic apurinic site. Results: Unique codon 6 haplotypes, many anemia-and thalassemia-causing, far exceed haplotypes at other ␤-globin codons. Conclusion: Excessive mutagenicity at the only ␤-globin self-depurination site indicates a mechanism discovered in vitro that functions in vivo. Significance: In vivo functionality of self-depurination sites in genes can spontaneously cause diseases via somatic mutations.

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Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias

Alvarez-Dominguez

Amosova

Fresco

2013

Journal of Biological Chemistry

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Hb LIMASSOL [β8(A5)Lys → Asn]: A NEW HEMOGLOBIN VARIANT

et al. 2001

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Pathology Consultation on HbA1c Methods and Interferences

Rhea

Molinaro

2014

American Journal of Clinical Pathology

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Hb Nakano [β8(Lys→Met]: A New β Chain Variant Fd in A Japanese Woman

Cited by 7 publications

References 3 publications

Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias

Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias

Hb LIMASSOL [β8(A5)Lys → Asn]: A NEW HEMOGLOBIN VARIANT

Pathology Consultation on HbA1c Methods and Interferences

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