title: Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
authors.affiliation: Bristol Institute for Transfusion Sciences, National Health Service Blood and Transplant (NHSBT), Bristol, UK.
authors.forename: B
authors.initials: B
authors.lastname: Singleton
authors.affiliation: Pediatric Haematology-Oncology Unit, Department of Paediatrics, Advanced Paediatrics Centre, PGIMER, Chandigarh, India.
authors.forename: D
authors.initials: D
authors.lastname: Bansal
authors.affiliation: Department of Haematology, PGIMER, Chandigarh, India.
authors.forename: N
authors.initials: N
authors.lastname: Varma
authors.affiliation: Department of Haematology, PGIMER, Chandigarh, India.
authors.forename: R
authors.initials: R
authors.lastname: Das
authors.affiliation: Department of Haematology, PGIMER, Chandigarh, India.
authors.forename: S
authors.initials: S
authors.lastname: Naseem
authors.affiliation: Department of Histopathology, PGIMER, Chandigarh, India.
authors.forename: U N
authors.initials: UN
authors.lastname: Saikia
authors.affiliation: Department of Internal Medicine, PGIMER, Chandigarh, India.
authors.forename: P
authors.initials: P
authors.lastname: Malhotra
authors.affiliation: Department of Internal Medicine, PGIMER, Chandigarh, India.
authors.forename: S
authors.initials: S
authors.lastname: Varma
authors.affiliation: Pediatric Haematology-Oncology Unit, Department of Paediatrics, Advanced Paediatrics Centre, PGIMER, Chandigarh, India.
authors.forename: R K
authors.initials: RK
authors.lastname: Marwaha
authors.affiliation: Membrane Biochemistry, International Blood Group Reference Laboratory, NHSBT, Bristol, UK.
authors.forename: M-J
authors.initials: MJ
authors.lastname: King
authors.affiliation: Department of Haematological Medicine, Leukaemia Genomics and Bone Marrow Failure Group, Kings College Hospital, London, UK.
authors.forename: M
authors.identifier: http://orcid.org/0000-0001-5744-3054
authors.initials: M
authors.lastname: Ahmed
mesh_terms: D000293:Adolescent; D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005006:Ethnicity / Q000235:genetics; D005260:Female; D018703:Founder Effect; D006720:Homozygote; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins