Novel mutations in Thai patients with glanzmann thrombasthenia.

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Novel mutations in Thai patients with glanzmann thrombasthenia.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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Novel mutations in Thai patients with glanzmann thrombasthenia.

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Novel mutations in Thai patients with glanzmann thrombasthenia.

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Item

label

Novel mutations in Thai patients with glanzmann thrombasthenia.

@en

Novel mutations in Thai patients with glanzmann thrombasthenia.

@nl

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Novel mutations in Thai patients with glanzmann thrombasthenia.

@en

Novel mutations in Thai patients with glanzmann thrombasthenia.

@nl

P1476

Novel mutations in Thai patients with glanzmann thrombasthenia

@en

P2093

Chupong Ittiwut

http://www.w3.org/2001/XMLSchema#string

Kanya Suphapeetiporn

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Karan Prasopsanti

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Pintip Suchartlikitwong

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Rungnapa Ittiwut

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Yaowaree Kittikalayawong

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P2860

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.

Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3.

A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.

Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case.

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.

Organization of the gene for platelet glycoprotein IIb.

Amino acid residues in the alpha IIb subunit that are critical for ligand binding to integrin alpha IIbbeta 3 are clustered in the beta-propeller model.

P304

520-524

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P31

scholarly article

P356

10.1111/EJH.12965

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Vorasuk Shotelersuk

Darintr Sosothikul

P577

2017-10-05T00:00:00Z

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P698

28888044

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P921

An Téalainn