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

• Main Authors: Jing Ruan (Author), Bing Han (Author), Junling Zhuang (Author), Miao Chen (Author), Fangfei Chen (Author), Yuzhou Huang (Author), Wenzhe Zhou (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...