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Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1.
Kwon, Won Kyung; Kim, Jee Ah; Park, Jong-Ho; Kim, Doo Ri; Park, Su Eun; Kim, Yae Jean; Yoo, Keon Hee; Jang, Ja-Hyun; Kang, Eun Suk.
Afiliação
  • Kwon WK; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Kim JA; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Park JH; Clinical Genomics Center, Samsung Medical Center, Seoul, South Korea.
  • Kim DR; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Park SE; Department of Pediatrics, School of Medicine, Pusan National University, Children's Hospital, Yangsan, South Korea.
  • Kim YJ; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Yoo KH; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Kang ES; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Front Pediatr ; 10: 812590, 2022.
Article em En | MEDLINE | ID: mdl-35402355
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article