(Q28276234)

English

A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain

scientific article published on August 15, 1991

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scholarly article

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A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain (English)

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hereditary elliptocytosis

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based on heuristic

inferred from title

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1840591

7 December 2022

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7 December 2022

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10.1016/S0021-9258(18)98598-4

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7 December 2022

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10.1016/S0021-9258(18)98598-4

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7 December 2022

author name string

P. G. Gallagher

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Europe PubMed Central

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7 December 2022

W. T. Tse

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7 December 2022

F. Costa

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7 December 2022

A. Scarpa

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7 December 2022

P. Boivin

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7 December 2022

J. Delaunay

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Europe PubMed Central

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7 December 2022

B. G. Forget

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7 December 2022

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publication date

15 August 1991

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full work available at URL

http://intl.jbc.org/cgi/content/abstract/266/23/15154

online access status

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7 December 2022

https://api.elsevier.com/content/article/PII:S0021925818985984?httpAccept=text/xml

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10.1016/S0021-9258(18)98598-4

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7 December 2022

https://api.elsevier.com/content/article/PII:S0021925818985984?httpAccept=text/plain

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7 December 2022

Journal of Biological Chemistry

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266

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23

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15154-9

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The red cell skeleton and its genetic disorders

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Spectrin-based membrane skeleton: a multipotential adaptor between plasma membrane and cytoplasm

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Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations

10

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Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements

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Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association

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Spectrin beta-chain variant associated with hereditary elliptocytosis

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