Title : Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

Pub. Date : 2013

PMID : 23806011






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 In the first case, a new delta-globin variant, Hb A2-Pierre-Benite [delta83(EF7)Gly Arg; HBD: c.250G>C] is associated with Hb Groene Hart [alpha119(H2)Pro Ser (alpha1); HBA1: c.358C>T], an alpha-thalassemic variant. Glycine FAM3 metabolism regulating signaling molecule D Homo sapiens