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[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Aug 2013

Wang Lu, Liu Gang, Zhang Qian, Cai Hao, Niu Shi-wen, Han Bing, Nie Guang-ju

Abstract excerpt

OBJECTIVE: To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA). METHODS: By direct sequencing method, we sequenced CDAN1 and SEC23B genes in a Chinese CDA II patient, presented with chronic fatigue and dark urine, as well as his family members. Serum hepcidin was assayed by mass spectrometry. RESULTS: We found a c.71G>A mutation and a c.74C> A mutation in the patient. In addition, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23978024
DOI: 10.3760/cma.j.issn.0253-2727.2013.08.013

Genes

CDA
CDAN1

Variants

Provenance

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