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)

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)

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...

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Bibliographic Details
Main Authors: Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee, Young Bae Choi, Jeong Ok Hah, Jae Min Lee, Jung Woo Han, Jae Hee Lee, Young-Ho Lee, Hye Lim Jung, Jung-Sook Ha, Chang-Seok Ki, on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group (KPHOG)
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
blood platelet disorders
high-throughput nucleotide sequencing
thrombasthenia
whole exome sequencing
whole genome sequencing
Online Access:https://www.mdpi.com/2073-4425/12/5/693

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https://www.mdpi.com/2073-4425/12/5/693

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