Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family

Cristina Curcio,Valentina Giannone,Elena Benzoni,Claudia Cesaretti,Giovanni Ivaldi

Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family

2019

Cristina Curcio
Valentina Giannone
Elena Benzoni
Claudia Cesaretti
Giovanni Ivaldi

AbstractInterest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving rise to hemoglobin (Hb) variants ...

Keywords:

Genetics
Molecular biology
Globin
Gene
Biology
Point mutation
Loss of heterozygosity
Sanger sequencing
Multiplex ligation-dependent probe amplification
Hemoglobin
Gene cluster
Hemolytic anemia

Correction
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