(Q36870012)

16 August 2017

title

Hematologically important mutations: Glanzmann thrombasthenia (English)

1 reference

16 August 2017

Hematologically Important Mutations: Glanzmann Thrombasthenia (English)

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

13 September 2024

author name string

D. L. French

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215749

13 September 2024

B. S. Coller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215749

13 September 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9215749

13 September 2024

publication date

1 January 1997

1 reference

full work available at URL

16 August 2017

https://api.elsevier.com/content/article/PII:S1079979697901170?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

https://api.elsevier.com/content/article/PII:S1079979697901170?httpAccept=text/plain

13 September 2024

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Blood Cells, Molecules and Diseases

13 September 2024

published in

1 reference

16 August 2017

volume

23

1 reference

16 August 2017

issue

1

1 reference

16 August 2017

page(s)

39-51

1 reference

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

16 August 2017

cites work

5

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

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

13 September 2024

7

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: comparison of techniques for carrier detection

13 September 2024

8

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Immunoblot analysis of platelet glycoprotein IIb in patients with Glanzmann thrombasthenia in Israel

13 September 2024

10

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

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

13 September 2024

12

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

13 September 2024

16

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association

13 September 2024

18

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Analysis of a variant form of platelet glycoprotein (GP) IIb: a second patient with abnormal molecular weight GPIIb

13 September 2024

24

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin

13 September 2024

26

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia

13 September 2024

27

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families

13 September 2024

28

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Demonstration of a marked reduction in the amount of GPIIb in most type II patients with Glanzmann's thrombasthenia

13 September 2024

29

1 reference

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Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombasthenia

13 September 2024

41

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation

13 September 2024

42

1 reference

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A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation

13 September 2024

46

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane

13 September 2024

48

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIIIa (integrin beta 3) Arg214 by Trp

13 September 2024

49

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

A large alteration in the human platelet glycoprotein IIIa (integrin beta 3) gene associated with Glanzmann's thrombasthenia

13 September 2024

59

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection

13 September 2024

60

1 reference

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Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia

13 September 2024

63

1 reference

https://api.crossref.org/works/10.1006/BCMD.1997.0117

Mutation of the cytoplasmic domain of the integrin beta 3 subunit. Differential effects on cell spreading, recruitment to adhesion plaques, endocytosis, and phagocytosis

13 September 2024

65

1 reference

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13 September 2024

Identifiers

1 reference

16 August 2017

1 reference