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Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia
by
Gao, Yuan
, Zhu, Qiao
, Jin, Keqin
, Feng, Wenwen
, Wang, Huiqin
, Fu, Congcong
, Liu, Hejin
, Chen, Zihui
in
Adult
/ Consanguinity
/ Female
/ Humans
/ Integrin beta3 - genetics
/ Male
/ Pedigree
/ Thrombasthenia - genetics
2024
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Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia
by
Gao, Yuan
, Zhu, Qiao
, Jin, Keqin
, Feng, Wenwen
, Wang, Huiqin
, Fu, Congcong
, Liu, Hejin
, Chen, Zihui
in
Adult
/ Consanguinity
/ Female
/ Humans
/ Integrin beta3 - genetics
/ Male
/ Pedigree
/ Thrombasthenia - genetics
2024
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Do you wish to request the book?
Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia
by
Gao, Yuan
, Zhu, Qiao
, Jin, Keqin
, Feng, Wenwen
, Wang, Huiqin
, Fu, Congcong
, Liu, Hejin
, Chen, Zihui
in
Adult
/ Consanguinity
/ Female
/ Humans
/ Integrin beta3 - genetics
/ Male
/ Pedigree
/ Thrombasthenia - genetics
2024
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Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia
Journal Article
Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia
2024
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Overview
The objective of this study was to investigate the clinical phenotype and genetic etiology of Glanzmann's thrombasthenia in a consanguineous pedigree.
Clinical data and ancillary test results were collected from pedigrees with Glanzmann's thrombasthenia. High-throughput sequencing was used to detect variants in the proband. Candidate variants were verified by Sanger sequencing.
Two patients in the pedigree were homozygous for the c.2248C>T (p. Arg750Ter) variant of the ITGB3 gene. The parents and maternal grandmother, who didn't have any recurrent haemorrhage, were found to carry a heterozygous c.2248C>T variant of the ITGB3 gene, which was absent in the aunt and paternal grandmother.
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.
Subject
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