Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy.

Lim, Jonathan; Hall, Rachel; Grist, Scott; Ross, David M

Lim, Jonathan; Hall, Rachel; Grist, Scott; Ross, David M.

Afiliação

Lim J; Department of Haematology, Flinders Medical Centre, Bedford Park, SA, Australia; Haematology Directorate, SA Pathology, Adelaide, SA, Australia. Electronic address: jonathan.lim@sa.gov.au.
Hall R; Genetic Pathology Directorate, SA Pathology, Adelaide, SA, Australia; College of Medicine and Public Health, Flinders University, Bedford Park, SA, Australia.
Grist S; Genetic Pathology Directorate, SA Pathology, Adelaide, SA, Australia; College of Medicine and Public Health, Flinders University, Bedford Park, SA, Australia.
Ross DM; Department of Haematology, Flinders Medical Centre, Bedford Park, SA, Australia; Haematology Directorate, SA Pathology, Adelaide, SA, Australia; College of Medicine and Public Health, Flinders University, Bedford Park, SA, Australia.

Pathology ; 54(7): 958-959, 2022 12.

Article em En | MEDLINE | ID: mdl-35304013

Assuntos

Anemia Megaloblástica; Transcobalaminas; Humanos; Transcobalaminas/genética; Anemia Megaloblástica/diagnóstico; Anemia Megaloblástica/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transcobalaminas / Anemia Megaloblástica Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Pathology Ano de publicação: 2022 Tipo de documento: Article

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