Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.

Li, Jing; Su, Yongfeng; Chen, Long; Lin, Yani; Ru, Kun

Li, Jing; Su, Yongfeng; Chen, Long; Lin, Yani; Ru, Kun.

Afiliación

Li J; SINO-US Diagnostics, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin, China.
Su Y; Department of Hematology for Seniors, the Fifth Medical Center, Chinese PLA General Hospital, Beijing, China.
Chen L; SINO-US Diagnostics, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin, China.
Lin Y; SINO-US Diagnostics, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin, China.
Ru K; SINO-US Diagnostics, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin, China.

Int J Lab Hematol ; 45(5): 766-773, 2023 Oct.

Article en En | MEDLINE | ID: mdl-37376976

Asunto(s)

Anemia de Diamond-Blackfan; Humanos; Anemia de Diamond-Blackfan/genética; Mutación; Genotipo

Palabras clave

Diamond-Blackfan anemia; NGS; RPS10; RPS26; molecular diagnosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia de Diamond-Blackfan Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Int J Lab Hematol Asunto de la revista: HEMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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