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Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
Singleton, B; Bansal, D; Varma, N; Das, R; Naseem, S; Saikia, U N; Malhotra, P; Varma, S; Marwaha, R K; King, M-J; Ahmed, M.
Affiliation
  • Singleton B; Bristol Institute for Transfusion Sciences, National Health Service Blood and Transplant (NHSBT), Bristol, UK.
  • Bansal D; Pediatric Haematology-Oncology Unit, Department of Paediatrics, Advanced Paediatrics Centre, PGIMER, Chandigarh, India.
  • Varma N; Department of Haematology, PGIMER, Chandigarh, India.
  • Das R; Department of Haematology, PGIMER, Chandigarh, India.
  • Naseem S; Department of Haematology, PGIMER, Chandigarh, India.
  • Saikia UN; Department of Histopathology, PGIMER, Chandigarh, India.
  • Malhotra P; Department of Internal Medicine, PGIMER, Chandigarh, India.
  • Varma S; Department of Internal Medicine, PGIMER, Chandigarh, India.
  • Marwaha RK; Pediatric Haematology-Oncology Unit, Department of Paediatrics, Advanced Paediatrics Centre, PGIMER, Chandigarh, India.
  • King MJ; Membrane Biochemistry, International Blood Group Reference Laboratory, NHSBT, Bristol, UK.
  • Ahmed M; Department of Haematological Medicine, Leukaemia Genomics and Bone Marrow Failure Group, Kings College Hospital, London, UK.
Clin Genet ; 88(2): 195-7, 2015 Aug.
Article in En | MEDLINE | ID: mdl-25418799
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Anemia, Dyserythropoietic, Congenital Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Reino Unido Country of publication: Dinamarca
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Anemia, Dyserythropoietic, Congenital Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Reino Unido Country of publication: Dinamarca