Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia (original) (raw)

Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia

Vicky van Santen

Veterinary Pathology, 2006

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Characterization of the cDNA Encoding IIb and 3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia

Pete W Christopherson

Veterinary Pathology, 2006

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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 214Arg214Trp mutation

Miguel Morales

Journal of Clinical Investigation, 1992

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

Peter Newman

Journal of Clinical Investigation, 1991

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Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13

Mary Boudreaux

Veterinary Pathology, 2000

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Glanzmann thrombasthenia in a 17-year-old Peruvian Paso mare

Pete W Christopherson, Macarena Sanz

Veterinary Clinical Pathology, 2011

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A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia–like phenotype

Peter Newman

2001

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Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia

János Kappelmayer

Haematologica, 2007

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Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene

Hava Peretz

Blood, 1995

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Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the α IIb β 3 integrin

P. Nurden

Journal of Thrombosis and Haemostasis, 2010

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Glanzmann thromblastenia in a 17-year-old Peruvian vaso mare

Tiwa Kampeera

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Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in β3 integrin

László Muszbek

Thrombosis Research, 2010

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Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes

Matilde Ayuso

Blood, 1999

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Decreased stability and structural heterogeneity of the residual platelet glycoprotein IIb/IIIa complex in a variant of Glanzmann's thrombasthenia

Marie-Christine Kopp

British Journal of Haematology, 1989

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Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia

Kenneth Clemetson

British Journal of Haematology, 1998

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

Peter Newman

Journal of Clinical Investigation, 1994

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Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohort

Nathalie Martins

Human Mutation, 2015

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A new multiplex PCR and conformation-sensitive gel electrophoresis strategy for mutation detection in the platelet glycoprotein αIIb and β3 genes

M. Chandy

Journal of Thrombosis and Haemostasis, 2007

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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

Peter Newman

Journal of Clinical Investigation, 1995

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Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia

Rivki Yatuv

Blood, 2001

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Glanzmann thrombasthenia in Pakistan; molecular analysis and identification of novel mutations

Dr. Munira Borhany

Clinical Genetics, 2015

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A nonsense mutation in the GPIIb heavy chain (Ser 870 stop) impairs platelet GPIIb-IIIa expression

Francois Morle

British Journal of Haematology, 1996

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A genetic analysis of integrin function: Glanzmann thrombasthenia in vitro

Joseph Loftus

Proceedings of the …, 1997

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Isolation of the human platelet glycoprotein IIb gene and characterization of the 5′ flanking region

G. Uzan

Biochemical and Biophysical Research Communications, 1988

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Genetic variability of platelet glycoprotein Ib? gene

Manoel Soares

American Journal of Hematology, 2004

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Organization of the gene for platelet glycoprotein IIb

Saul Surrey

Biochemistry, 1990

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Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus

Hava Peretz

Blood, 2003

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Truncation of the Cytoplasmic Domain of b 3 in a Variant Form of Glanzmann Thrombasthenia Abrogates Signaling through the Integrin a IIb b 3 Complex

Peter Newman

2013

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