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

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

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.

Afiliação

Choi HS; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
Choi Q; Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Republic of Korea.
Kim JA; Department of Laboratory Medicine, Seoul National University College of Medicine, 101, Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Im KO; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park SN; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park Y; Division of Biomedical Informatics, Seoul National University Biomedical Informatics (SNUBI), Seoul National University College of Medicine, 101, Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Shin HY; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kang HJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kook H; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim SY; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim SJ; Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Republic of Korea.
Kim I; Department of Laboratory Medicine, Chungnam National University School of Medicine, Daejeon, Republic of Korea.
Kim JY; Division of Hematology, Department of Internal Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.
Kim H; Department of Internal Medicine, Seoul National University College Medicine, Seoul, Republic of Korea.
Park KD; Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Republic of Korea.
Park KB; Department of Hematology and Oncology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Republic of Korea.
Park M; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park SK; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park ES; Department of Pediatrics, Soonchunhyang University Hospital Cheonan, Cheonan, Republic of Korea.
Park JA; Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Republic of Korea.
Park JE; Department of Pediatrics, Ulsan University Hospital, Ulsan, Republic of Korea.
Park JK; Department of Pediatrics, Gyeongsang National University College of Medicine, Jinju, Republic of Korea.
Baek HJ; Department of Pediatrics, Inje University College of Medicine, Busan, Republic of Korea.
Seo JH; Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
Shim YJ; Department of pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Republic of Korea.
Ahn HS; Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Republic of Korea.
Yoo KH; Department of Pediatrics, Pusan National University College of Medicine, Yangsan, Republic of Korea.
Yoon HS; Department of Pediatrics, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Republic of Korea.
Won YW; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Lee KS; Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea.
Lee KC; Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Republic of Korea.
Lee MJ; Department of Internal Medicine, Hanyang University Guri Hospital, Guri, Republic of Korea.
Lee SA; Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Republic of Korea.
Lee JA; Department of Pediatrics, Korea University College of Medicine, Seoul, Republic of Korea.
Lee JM; Department of Pediatrics, University of Dankook College of Medicine, Cheonan, Republic of Korea.
Lee JH; Department of Internal Medicine, Daegu Fatima Hospital, Daegu, Republic of Korea.
Lee JW; Department of Pediatrics, Korea Cancer Center Hospital, Seoul, Republic of Korea.
Lim YT; Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Republic of Korea.
Jung HJ; Department of Pediatrics, Chosun University School of Medicine, Gwangju, Republic of Korea.
Chueh HW; Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea.
Choi EJ; Department of Pediatrics, Pusan National University College of Medicine, Yangsan, Republic of Korea.
Jung HL; Department of Pediatrics, Ajou University School of Medicine, Suwon, Republic of Korea.
Kim JH; Department of Pediatrics, Dong-A University College of Medicine, Busan, Republic of Korea.
Lee DS; Department of Pediatrics, Daegu Catholic University, Daegu, Republic of Korea.

Orphanet J Rare Dis ; 14(1): 114, 2019 05 23.

Article em En | MEDLINE | ID: mdl-31122244

Assuntos

Fragilidade Osmótica/fisiologia; Esferócitos/metabolismo; Esferocitose Hereditária/metabolismo; Adolescente; Adulto; Idoso; Idoso de 80 Anos ou mais; Proteína 1 de Troca de Ânion do Eritrócito/genética; Proteína 1 de Troca de Ânion do Eritrócito/metabolismo; Anquirinas/genética; Anquirinas/metabolismo; Proteínas de Transporte/genética; Proteínas de Transporte/metabolismo; Criança; Pré-Escolar; Proteínas do Citoesqueleto/genética; Proteínas do Citoesqueleto/metabolismo; Feminino; Glucuronosiltransferase/genética; Glucuronosiltransferase/metabolismo; Humanos; Lactente; Masculino; Proteínas de Membrana/genética; Proteínas de Membrana/metabolismo; Proteínas dos Microfilamentos/genética; Proteínas dos Microfilamentos/metabolismo; Pessoa de Meia-Idade; Mutação/genética; Fragilidade Osmótica/genética; Patologia Molecular; República da Coreia; Espectrina/genética; Espectrina/metabolismo; Esferocitose Hereditária/genética; Adulto Jovem

Palavras-chave

Hereditary spherocytosis; Molecular diagnosis; RBC membrane disorder

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fragilidade Osmótica / Esferócitos / Esferocitose Hereditária Tipo de estudo: Diagnostic_studies Limite: Aged80 País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article

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