Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Abstract Background Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated t...

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Bibliographic Details
Main Authors: Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park, Meerim Park, Sang Kyu Park, Eun Sil Park, Jeong-A Park, Jun Eun Park, Ji Kyoung Park, Hee Jo Baek, Jeong Ho Seo, Ye Jee Shim, Hyo Seop Ahn, Keon Hee Yoo, Hoi Soo Yoon, Young-Woong Won, Kun Soo Lee, Kwang Chul Lee, Mee Jeong Lee, Sun Ah. Lee, Jun Ah Lee, Jae Min Lee, Jae Hee Lee, Ji Won Lee, Young Tak Lim, Hyun Joo Jung, Hee Won Chueh, Eun Jin Choi, Hye Lim Jung, Ju Han Kim, Dong Soon Lee, The Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary spherocytosis
RBC membrane disorder
Molecular diagnosis
Online Access:http://link.springer.com/article/10.1186/s13023-019-1070-0

Internet

http://link.springer.com/article/10.1186/s13023-019-1070-0

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