{"id":"https://openalex.org/W7125924909","doi":"https://doi.org/10.51298/vmj.v558i1.16987","title":"B\u00c1O C\u00c1O CA B\u1ec6NH: H\u1ed2NG C\u1ea6U NH\u1ece H\u00ccNH C\u1ea6U DI TRUY\u1ec0N DO M\u1ea4T \u0110O\u1ea0N L\u1edaN 1,1MB V\u00d9NG 14Q23.2\u2013Q23.3 BAO G\u1ed2M GENE SPTB","display_name":"B\u00c1O C\u00c1O CA B\u1ec6NH: H\u1ed2NG C\u1ea6U NH\u1ece H\u00ccNH C\u1ea6U DI TRUY\u1ec0N DO M\u1ea4T \u0110O\u1ea0N L\u1edaN 1,1MB V\u00d9NG 14Q23.2\u2013Q23.3 BAO G\u1ed2M GENE SPTB","publication_year":2026,"publication_date":"2026-01-28","ids":{"openalex":"https://openalex.org/W7125924909","doi":"https://doi.org/10.51298/vmj.v558i1.16987"},"language":"vi","primary_location":{"id":"doi:10.51298/vmj.v558i1.16987","doi":"https://doi.org/10.51298/vmj.v558i1.16987","is_oa":true,"landing_page_url":"https://doi.org/10.51298/vmj.v558i1.16987","pdf_url":"https://tapchiyhocvietnam.vn/index.php/vmj/article/download/16987/14536","source":{"id":"https://openalex.org/S4210225430","display_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","issn_l":"1859-1868","issn":["1859-1868"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4360969410","host_organization_name":"Vietnam Public Health Association","host_organization_lineage":["https://openalex.org/P4360969410"],"host_organization_lineage_names":["Vietnam Public Health Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://tapchiyhocvietnam.vn/index.php/vmj/article/download/16987/14536","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100501340","display_name":"Th\u1ecb Anh Th\u01b0 H\u1ed3","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"Th\u1ecb Anh Th\u01b0 H\u1ed3","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5124088717","display_name":"Nh\u1eadt V\u01b0\u01a1ng V\u00f5","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"Nh\u1eadt V\u01b0\u01a1ng V\u00f5","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5124084376","display_name":"Ng\u1ecdc Qu\u1ef3nh Tr\u00e2m \u0110o\u00e0n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"Ng\u1ecdc Qu\u1ef3nh Tr\u00e2m \u0110o\u00e0n","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159837870","display_name":"B\u1ea3o To\u00e0n Hu\u1ef3nh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"B\u1ea3o To\u00e0n Hu\u1ef3nh","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5124057933","display_name":"Th\u1ecb Minh Ph\u01b0\u01a1ng L\u00ea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"Th\u1ecb Hi\u1ec1n L\u00ea","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5124057933","display_name":"Th\u1ecb Minh Ph\u01b0\u01a1ng L\u00ea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405276924","display_name":"Vinmec Nha Trang Hospital","ror":"https://ror.org/00vd9q916","country_code":"VN","type":"healthcare","lineage":["https://openalex.org/I4387154326","https://openalex.org/I4405276924","https://openalex.org/I4405276989"]}],"countries":["VN"],"is_corresponding":false,"raw_author_name":"Th\u1ecb Thu H\u00e0 L\u00ea","raw_affiliation_strings":["B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Nha Trang","institution_ids":["https://openalex.org/I4405276924"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4405276924"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"558","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.09929999709129333,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.00989999994635582,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-spherocytosis","display_name":"hereditary spherocytosis","score":0.9940000176429749},{"id":"https://openalex.org/keywords/chronic-hemolytic-anemia","display_name":"chronic hemolytic anemia","score":0.6890000104904175},{"id":"https://openalex.org/keywords/splenomegaly","display_name":"splenomegaly","score":0.7829999923706055},{"id":"https://openalex.org/keywords/syne2","display_name":"SYNE2","score":0.6349999904632568},{"id":"https://openalex.org/keywords/mthfd1","display_name":"MTHFD1","score":0.9879999756813049},{"id":"https://openalex.org/keywords/max","display_name":"Max","score":0.8849999904632568},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.4860000014305115},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.5080000162124634}],"concepts":[{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.5964999794960022},{"id":"https://openalex.org/C2776952295","wikidata":"https://www.wikidata.org/wiki/Q541244","display_name":"Hereditary spherocytosis","level":2,"score":0.29589998722076416},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.26829999685287476},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.25060001015663147},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24070000648498535},{"id":"https://openalex.org/C521751864","wikidata":"https://www.wikidata.org/wiki/Q1729207","display_name":"Christian ministry","level":2,"score":0.21860000491142273},{"id":"https://openalex.org/C175656101","wikidata":"https://www.wikidata.org/wiki/Q56646","display_name":"Chinese hamster ovary cell","level":3,"score":0.20239999890327454},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.1914999932050705},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.17640000581741333},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.1632000058889389}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.51298/vmj.v558i1.16987","doi":"https://doi.org/10.51298/vmj.v558i1.16987","is_oa":true,"landing_page_url":"https://doi.org/10.51298/vmj.v558i1.16987","pdf_url":"https://tapchiyhocvietnam.vn/index.php/vmj/article/download/16987/14536","source":{"id":"https://openalex.org/S4210225430","display_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","issn_l":"1859-1868","issn":["1859-1868"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4360969410","host_organization_name":"Vietnam Public Health Association","host_organization_lineage":["https://openalex.org/P4360969410"],"host_organization_lineage_names":["Vietnam Public Health Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.51298/vmj.v558i1.16987","doi":"https://doi.org/10.51298/vmj.v558i1.16987","is_oa":true,"landing_page_url":"https://doi.org/10.51298/vmj.v558i1.16987","pdf_url":"https://tapchiyhocvietnam.vn/index.php/vmj/article/download/16987/14536","source":{"id":"https://openalex.org/S4210225430","display_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","issn_l":"1859-1868","issn":["1859-1868"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4360969410","host_organization_name":"Vietnam Public Health Association","host_organization_lineage":["https://openalex.org/P4360969410"],"host_organization_lineage_names":["Vietnam Public Health Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"T\u1ea1p ch\u00ed Y h\u1ecdc Vi\u1ec7t Nam","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7125924909.pdf","grobid_xml":"https://content.openalex.org/works/W7125924909.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2923231746","https://openalex.org/W3175561957","https://openalex.org/W4401520281","https://openalex.org/W4416235158","https://openalex.org/W4394858320","https://openalex.org/W4223541102","https://openalex.org/W4409590194","https://openalex.org/W6927325560","https://openalex.org/W3097213554","https://openalex.org/W2810268405"],"abstract_inverted_index":{"H\u1ed3ng":[0],"c\u1ea7u":[1,4,102],"nh\u1ecf":[2,32],"h\u00ecnh":[3,103],"di":[5,211],"truy\u1ec1n":[6,212],"(Hereditary":[7],"Spherocytosis":[8],"-":[9],"HS)":[10],"l\u00e0":[11,152],"nguy\u00ean":[12,138,224],"nh\u00e2n":[13,139],"ph\u1ed5":[14],"bi\u1ebfn":[15,27,30],"g\u00e2y":[16,140],"thi\u1ebfu":[17,78,218],"m\u00e1u":[18,79,81,95,219],"huy\u1ebft":[19,220],"t\u00e1n":[20,221],"b\u1ea9m":[21],"sinh.":[22],"B\u1ec7nh":[23],"th\u01b0\u1eddng":[24],"do":[25,49,168],"\u0111\u1ed9t":[26],"\u0111i\u1ec3m":[28],"ho\u1eb7c":[29],"th\u1ec3":[31],"trong":[33,215],"c\u00e1c":[34,178,196],"gen":[35,54,108,135,174],"m\u00e3":[36,118],"h\u00f3a":[37,119],"protein":[38],"m\u00e0ng":[39],"h\u1ed3ng":[40,101],"c\u1ea7u.":[41,104],"Ch\u01b0a":[42],"c\u00f3":[43,90],"nhi\u1ec1u":[44,100],"b\u00e1o":[45,58],"c\u00e1o":[46,59],"v\u1ec1":[47,166],"HS":[48,167,189],"m\u1ea5t":[50,127,169],"\u0111o\u1ea1n":[51,128,170],"l\u1edbn":[52,129,171],"ch\u1ee9a":[53],"SPTB.":[55,175],"Ch\u00fang":[56],"t\u00f4i":[57],"tr\u01b0\u1eddng":[60,153],"h\u1ee3p":[61,154],"b\u1ec7nh":[62,180,183,204],"nhi":[63,184],"nam":[64],"10":[65],"tu\u1ed5i,":[66],"ti\u1ec1n":[67],"s\u1eed":[68],"gia":[69],"\u0111\u00ecnh":[70],"ch\u01b0a":[71,222],"ph\u00e1t":[72,125,199],"hi\u1ec7n":[73,77,126,188],"li\u00ean":[74],"quan,":[75],"bi\u1ec3u":[76,187],"tan":[80],"m\u1ea1n":[82],"t\u00ednh,":[83],"l\u00e1ch":[84],"to":[85],"\u0111\u1ed9":[86],"III,":[87],"si\u00eau":[88],"\u00e2m":[89],"b\u00f9n":[91],"t\u00fai":[92],"m\u1eadt,":[93],"ph\u1ebft":[94],"ngo\u1ea1i":[96],"vi":[97],"cho":[98],"th\u1ea5y":[99],"Gi\u1ea3i":[105],"tr\u00ecnh":[106],"t\u1ef1":[107],"th\u1ebf":[109,164],"h\u1ec7":[110],"m\u1edbi":[111],"(NGS)":[112],"t\u1eadp":[113],"trung":[114],"ph\u00e2n":[115],"t\u00edch":[116],"v\u00f9ng":[117],"(exon)":[120],"c\u1ee7a":[121,148],"kho\u1ea3ng":[122],"4,503":[123],"gen,":[124],"1,1":[130],"Mb":[131],"14q23.2\u2013q23.3":[132],"(bao":[133],"g\u1ed3m":[134,173],"SPTB":[136],"\u2013":[137],"HS,":[141],"SYNE2,":[142],"MTHFD1,":[143],"MAX).":[144],"Theo":[145],"hi\u1ec3u":[146],"bi\u1ebft":[147],"ch\u00fang":[149],"t\u00f4i,":[150],"\u0111\u00e2y":[151],"\u0111\u1ea7u":[155],"ti\u00ean":[156],"\u1edf":[157],"Vi\u1ec7t":[158],"Nam":[159],"v\u00e0":[160],"th\u1ee9":[161],"t\u01b0":[162],"tr\u00ean":[163],"gi\u1edbi":[165],"bao":[172],"Kh\u00e1c":[176],"v\u1edbi":[177],"ca":[179],"tr\u01b0\u1edbc":[181],"\u0111\u00e2y,":[182],"n\u00e0y":[185],"ch\u1ec9":[186],"\u0111\u01a1n":[190],"thu\u1ea7n":[191],"m\u00e0":[192],"kh\u00f4ng":[193],"k\u00e8m":[194],"theo":[195],"r\u1ed1i":[197],"lo\u1ea1n":[198],"tri\u1ec3n":[200],"th\u1ea7n":[201],"kinh.":[202],"Ca":[203],"nh\u1ea5n":[205],"m\u1ea1nh":[206],"vai":[207],"tr\u00f2":[208],"x\u00e9t":[209],"nghi\u1ec7m":[210],"to\u00e0n":[213],"di\u1ec7n":[214],"ch\u1ea9n":[216],"\u0111o\u00e1n":[217],"r\u00f5":[223],"nh\u00e2n.":[225]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-01-29T00:00:00"}
