• Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Lys (c.19G>A) (E6K); ClinVar=VCV000015126; Zygosity=Heterozygous (Coriell=GM16266).
  
• Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM16266).
  

PubMed=16166172; DOI=10.1373/clinchem.2005.048694
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