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Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
Ravindra, Niveditha; Athiyarath, Rekha; S, Eswari; S, Sumithra; Kulkarni, Uday; N A, Fouzia; Korula, Anu; Shaji, Ramachandran V; George, Biju; Edison, Eunice Sindhuvi.
  • Ravindra N; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • Athiyarath R; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • S E; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • S S; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • Kulkarni U; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • N A F; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • Korula A; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • Shaji RV; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • George B; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
  • Edison ES; Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India eunice@cmcvellore.ac.in.
J Clin Pathol ; 74(3): 157-162, 2021 Mar.
Article en En | MEDLINE | ID: mdl-32605921
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Transporte de Membrana Mitocondrial / 5-Aminolevulinato Sintetasa / Anemia Sideroblástica Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Transporte de Membrana Mitocondrial / 5-Aminolevulinato Sintetasa / Anemia Sideroblástica Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article