Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

Abstract Background Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and int...

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Bibliographic Details
Main Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang, Wenzhe Zhou
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Megaloblastic anemia
Cobalamin deficiency
Intrinsic factor
Online Access:http://link.springer.com/article/10.1186/s12881-020-01158-z

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http://link.springer.com/article/10.1186/s12881-020-01158-z

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