{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Choi HS"],"funding":["SK Telecom Research Fund","National Research Foundation of Korea"],"pagination":["114"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6533652"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["<h4>Background</h4>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 patterns of genetic variation associated with HS among patients clinically diagnosed with HS.<h4>Methods</h4>Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform.<h4>Results</h4>Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane protein-encoding genes. A total of 54 significant variants in"],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte."],"pmcid":["PMC6533652"],"funding_grant_id":["NRF-2014R1A2A1A10052286","3420130160"],"pubmed_authors":["Shin HY","Chueh HW","Park SN","Kim SY","Kook H","Choi EJ","Kim H","Lee JA","Kim I","Yoo KH","Won YW","Jung HJ","Choi Q","Park Y","Ahn HS","Kim JY","Lee JM","Baek HJ","Kim SJ","Park KB","Park SK","Park KD","Lee JH","Park JE","Lim YT","Lee KC","Kang HJ","Seo JH","Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology","Park M","Park JK","Choi HS","Lee SA","Shim YJ","Lee DS","Lee JW","Jung HL","Lee KS","Park ES","Yoon HS","Im KO","Kim JH","Kim JA","Park JA","Lee MJ"],"additional_accession":[]},"is_claimable":false,"name":"Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.","description":"<h4>Background</h4>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 patterns of genetic variation associated with HS among patients clinically diagnosed with HS.<h4>Methods</h4>Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform.<h4>Results</h4>Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane protein-encoding genes. A total of 54 significant variants in","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 May","modification":"2026-05-07T04:07:15.51Z","creation":"2025-05-18T13:15:29.194Z"},"accession":"S-EPMC6533652","cross_references":{"pubmed":["31122244"],"doi":["10.1186/s13023-019-1070-0"]}}