Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

doi:10.3390/genes12050693

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Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

Genes - 6 May 2021

Yang Eu Jeen, Shim Ye Jee, Kim Heung Sik, Lim Young Tak, Im Ho Joon, Koh Kyung-Nam, Kim Hyery, Suh Jin Kyung, Park Eun Sil, Lee Na Hee, Choi Young Bae, Hah Jeong Ok, Lee Jae Min, Han Jung Woo, Lee Jae Hee, Lee Young-Ho, Jung Hye Lim, Ha Jung-Sook, Ki Chang-Seok, On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog

Abstract excerpt

The diagnosis of inherited platelet function disorders (IPFDs) is challenging owing to the unavailability of essential testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. This study, conducted by the Korean Pediatric Hematology Oncology Group from March 2017 to December 2020, aimed to identify the causative genetic variants of IPFDs in Korean...

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PMID: 34066320
DOI: 10.3390/genes12050693
PMCID: PMC8148153

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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