Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

doi:10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M

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Article

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Human mutation - 1 Jan 1996

Maillet P, Alloisio N, Morlé L, Delaunay J

Abstract excerpt

Hereditary elliptocytosis (HE), its aggravated form hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS) designate a set of congenital hemolytic syndromes. The responsible mutations lie in several genes encoding proteins of the red cell membrane. In particular, they involve the...

Topics

Elliptocytosis, Hereditary
Erythrocyte Membrane
Humans
Mutation
Polymorphism, Single-Stranded Conformational
Spherocytosis, Hereditary

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