A synonymous variant is unmasked in thalassaemia.

Hunt, Ryan C; Kimchi-Sarfaty, Chava

Hunt, Ryan C; Kimchi-Sarfaty, Chava.

Afiliación

Hunt RC; Hemostasis Branch, Division of Hemostasis, Office of Plasma Protein Therapeutics CMC, Office of Therapeutic Products, Center for Biologics Evaluation and Research, US FDA, Silver Spring, Maryland, USA.
Kimchi-Sarfaty C; Hemostasis Branch, Division of Hemostasis, Office of Plasma Protein Therapeutics CMC, Office of Therapeutic Products, Center for Biologics Evaluation and Research, US FDA, Silver Spring, Maryland, USA.

Br J Haematol ; 204(2): 399-401, 2024 02.

Article en En | MEDLINE | ID: mdl-37985143

Asunto(s)

Talasemia; Talasemia beta; Humanos; Mutación Silenciosa; Mutación; Talasemia beta/genética; Globinas beta/genética; Globinas/genética

Palabras clave

mutation; ß-thalassemia

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Talasemia / Talasemia beta Límite: Humans Idioma: En Revista: Br J Haematol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

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