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

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 the patte...

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Publié dans:Orphanet J Rare Dis
Auteurs principaux: Choi, Hyoung Soo, Choi, Qute, Kim, Jung-Ah, Im, Kyong Ok, Park, Si Nae, Park, Yoomi, Shin, Hee Young, Kang, Hyoung Jin, Kook, Hoon, Kim, Seon Young, Kim, Soo-Jeong, Kim, Inho, Kim, Ji Yoon, Kim, Hawk, Park, Kyung Duk, Park, Kyung Bae, Park, Meerim, Park, Sang Kyu, Park, Eun Sil, Park, Jeong-A, Park, Jun Eun, Park, Ji Kyoung, Baek, Hee Jo, Seo, Jeong Ho, Shim, Ye Jee, Ahn, Hyo Seop, Yoo, Keon Hee, Yoon, Hoi Soo, Won, Young-Woong, Lee, Kun Soo, Lee, Kwang Chul, Lee, Mee Jeong, Lee, Sun Ah., Lee, Jun Ah, Lee, Jae Min, Lee, Jae Hee, Lee, Ji Won, Lim, Young Tak, Jung, Hyun Joo, Chueh, Hee Won, Choi, Eun Jin, Jung, Hye Lim, Kim, Ju Han, Lee, Dong Soon
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6533652/
https://ncbi.nlm.nih.gov/pubmed/31122244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1070-0
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