Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.

Saptarshi, Arati Nandan; Dongerdiye, Rashmi K; More, Tejashree Anil; Kedar, Prabhakar S

Saptarshi, Arati Nandan; Dongerdiye, Rashmi K; More, Tejashree Anil; Kedar, Prabhakar S.

Afiliación

Saptarshi AN; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, 13th Floor, New Multi Storeyed Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
Dongerdiye RK; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, 13th Floor, New Multi Storeyed Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
More TA; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, 13th Floor, New Multi Storeyed Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
Kedar PS; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, 13th Floor, New Multi Storeyed Building, KEM Hospital Campus, Parel, Mumbai, 400012, India. kedarps2002@yahoo.com.

Ital J Pediatr ; 49(1): 84, 2023 Jul 16.

Article en En | MEDLINE | ID: mdl-37455305

Asunto(s)

Anemia Diseritropoyética Congénita; Humanos; Anemia Diseritropoyética Congénita/diagnóstico; Anemia Diseritropoyética Congénita/genética; Mutación; Reacción en Cadena de la Polimerasa; Proteínas de Transporte Vesicular/genética

Palabras clave

Congenital dyserythropoietic anemia; High-resolution melting curve; Sanger sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia Diseritropoyética Congénita Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido

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