E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II | Zendy

Achiya Amir | Zendy; Orly Dgany | Zendy; Tanya Krasnov | Zendy; P Resnitzky | Zendy; Ronit Mor-Cohen | Zendy; Michael Bennett | Zendy; Alain Berrébi | Zendy; Hannah Tamary | Zendy

Open Access

E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II

Author(s) -

Achiya Amir,

Orly Dgany,

Tanya Krasnov,

P Resnitzky,

Ronit Mor-Cohen,

Michael Bennett,

Alain Berrébi,

Hannah Tamary

Publication year - 2011

Publication title -

acta haematologica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.574

H-Index - 56

eISSN - 1421-9662

pISSN - 0001-5792

DOI - 10.1159/000322948

Subject(s) - ineffective erythropoiesis , compound heterozygosity , missense mutation , mutation , genetics , anemia , medicine , biology , erythropoiesis , gene

Congenital dyserythropoietic anemia (CDA) is characterized by ineffective erythropoiesis, binuclearity of erythroid precursors and secondary hemochromatosis. Recently, the gene mutated in CDA type II (CDA II), SEC23B, was identified. All Israeli patients with CDA II are of North African (mainly Moroccan) Jewish descent. We investigated the molecular basis of CDA II in those patients.

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