A 5′ splice region G → C mutation in exon 3 of the human β‐spectrin gene leads to decreased levels of β‐spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene‐Penfao)-Reference-Cited by-同舟云学术

A 5′ splice region G → C mutation in exon 3 of the human β‐spectrin gene leads to decreased levels of β‐spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene‐Penfao)

Published:1998-01 Issue:1 Volume:100 Page:90-98
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:British Journal of Haematology

Author:

Garbarz Michel¹,Galand Colette¹,Bibas Dominique¹,Bournier Odile¹,Devaux Isabelle¹,Harousseau Jean‐Luc²,Grandchamp Bernard¹,Dhermy Didier¹

Affiliation:

1. INSERM U409, Association Claude Bernard, Faculté de Médecine Xavier Bichat, Paris,

2. Service d'Hématologie, C.H.R. de Nantes, France

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2141.1998.00530.x

Reference32 articles.

1. A ‘G’ to ‘A’ mutation at position −1 of a 5′ splice site in a late infantile form of Tay‐Sachs disease;Akli S.;Journal of Biological Chemistry,1990

2. The Exon-Intron Organization of the Human Erythroid β-Spectrin Gene

3. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

4. Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance;Clark M.R.;Blood,1983

5. Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects

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