Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.

The homozygous variant c.2248C>T (p. Arg750Ter) in the ITGB3 gene underlies the disease in this pedigree. This diagnosis will facilitate genetic counselling in this pedigree for better patient management and life guidance.

Authors

Yuan Gao (ORCID: https://orcid.org/0000-0001-9290-4397)
Hejin Liu
Keqin Jin (ORCID: https://orcid.org/0000-0003-4309-4791)
Zihui Chen
Wenwen Feng
Huiqin Wang (ORCID: https://orcid.org/0000-0002-4372-0484)
Qiao Zhu
Congcong Fu

Publication Details

Journal: PubMed
Published: 2024-09-01
Primary Topic: Platelet Disorders and Treatments
Type: article
Field-Weighted Citation Impact: 0.00

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article

Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.

Yuan Gao, Hejin Liu, Keqin Jin, Zihui Chen et al.

Sep 1, 2024

PubMed

Platelet Disorders and Treatments

article

Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.

Yuan Gao, Hejin Liu, Keqin Jin, Zihui Chen, Wenwen Feng, Huiqin Wang, Qiao Zhu, Congcong Fu

September 1, 2024article en

Abstract

PubMedVol. 30(9)

Openalex Percentile: Top 92%

Platelet Disorders and Treatments

OpenAlex

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Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia. — Yuan Gao, Hejin Liu, et al. · PubMed (2024) | TGRS Research Map | TGRS