Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation (Q24628800)

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English	Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation	scientific article

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instance of

scholarly article

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title

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation (English)

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author

Francis Galibert

series ordinal

6

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author name string

M Garbarz

series ordinal

1

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W T Tse

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2

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P G Gallagher

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3

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C Picat

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4

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M C Lecomte

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5

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D Dhermy

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7

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B G Forget

series ordinal

8

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language of work or name

English

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publication date

July 1991

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published in

Journal of Clinical Investigation

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volume

88

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issue

1

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page(s)

76-81

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cites work

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

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7 April 2017

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

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Full-length sequence of the cDNA for human erythroid beta-spectrin

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7 April 2017

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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DNA sequencing with chain-terminating inhibitors

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PubMed Central

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7 April 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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PubMed Central

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Erythrocyte spectrin is comprised of many homologous triple helical segments

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7 April 2017

Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis

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PubMed Central

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7 April 2017

Molecular cloning of the cDNA for human erythrocyte beta-spectrin

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PubMed Central

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7 April 2017

Spectrin beta-chain variant associated with hereditary elliptocytosis

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PubMed Central

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27 September 2017

Elimination of mRNA splicing by a point mutation outside the conserved GU at 5' splice sites

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The red cell skeleton and its genetic disorders

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The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

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Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia

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Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen

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30 May 2018

Molecular characterization of erythrocyte glycophorin C variants

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Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

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Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

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Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

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Structural characterization of the phosphorylation sites of human erythrocyte spectrin

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI115307

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PMC publication ID

296005

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PubMed publication ID

2056132

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