Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).

Article

Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).

Blood - 1 Jun 1994

Perrotta S, Miraglia del Giudice E, Alloisio N, Sciarratta G, Pinto L, Delaunay J, Cutillo S, Iolascon A

Abstract excerpt

We report a new mutation responsible for nonhemolytic hereditary elliptocytosis (HE). The proband displayed an impaired spectrin self-association and an increase of the alpha I 74-kD fragment (alpha I/74 abnormality). The responsible mutation occurred in exon 2 of spectrin alpha-gene: alpha 34 Ar...

Topics

Alleles
Base Sequence
Child
Elliptocytosis, Hereditary
Female
Humans
Male
Molecular Sequence Data
Mutation
Spectrin

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