(Q48095907)

8 February 2018

title

Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency (English)

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8 February 2018

author

Francisco Sánchez-Madrid

4

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8 February 2018

author name string

López Rodríguez C

1

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8 February 2018

Nueda A

2

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8 February 2018

Grospierre B

3

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8 February 2018

Fischer A

5

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8 February 2018

Springer TA

6

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8 February 2018

Corbí AL

7

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8 February 2018

language of work or name

English

0 references

publication date

1 November 1993

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8 February 2018

number of pages

7

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European Journal of Immunology

inferred from page(s)

published in

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8 February 2018

volume

23

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8 February 2018

issue

11

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8 February 2018

page(s)

2792-2798

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8 February 2018

Premature translation termination mediates triosephosphate isomerase mRNA degradation

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The Severe and Moderate Phenotypes of Heritable Mac-1, LFA-1 Deficiency: Their Quantitative Definition and Relation to Leukocyte Dysfunction and Clinical Features

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The leukocyte integrins

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7 January 2021

Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response

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7 January 2021

Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

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7 January 2021

Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency

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7 January 2021

Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster involved in cell adhesion

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7 January 2021

Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form

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7 January 2021

Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency

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7 January 2021

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates

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7 January 2021

Molecular basis for a severe case of leukocyte adhesion deficiency

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LFA-1 beta-chain synthesis and degradation in patients with leukocyte-adhesive proteins deficiency

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7 January 2021

Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.

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7 January 2021

The gene organisation of the human beta 2 integrin subunit (CD18)

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7 January 2021

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7 January 2021

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

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7 January 2021

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

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7 January 2021

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

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7 January 2021

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

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7 January 2021

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families

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7 January 2021

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance

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7 January 2021

A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia

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7 January 2021

The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel

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7 January 2021

Pathways for the nuclear transport of proteins and RNAs

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7 January 2021

beta zero thalassemia in Sardinia is caused by a nonsense mutation

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7 January 2021

Identifiers

DOI

10.1002/EJI.1830231111

1 reference

8 February 2018

1 reference

8 February 2018