Frequentde novomonoallelic expression of β‐spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency-Reference-Cited by-同舟云学术

Frequentde novomonoallelic expression of β‐spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency

Published:1998-05 Issue:2 Volume:101 Page:251-254
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:British Journal of Haematology

Author:

Miraglia Del Giudice Emanuele¹,Lombardi Cinzia¹,Francese Matteo¹,Nobili Bruno¹,Conte Maria Luisa¹,Amendola Giovanni²,Cutillo Stefano¹,Iolascon Achille³,Perrotta Silverio¹

Affiliation:

1. Dipartimento di Pediatria, Seconda Università degli Studi di Napoli, Napoli, Italy,

2. Dipartimento di Pediatria, Ospedale San Leonardo, Castellammare di Stabia, Italy,

3. Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Bari, Italy

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2141.1998.00688.x

Reference12 articles.

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

2. Human Gene Mutations Affecting RNA Processing and Translation

3. Nonsense codon mutations in the terminal exon of the β‐globin gene are not associated with a reduction in β‐mRNA accumulation: a mechanism for the phenotype of dominant β‐thalassemia;Hall G.W.;Blood,1994

4. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency;Hassoun H.;Blood,1997

5. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin;Hassoun H.;Blood,1996

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