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

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 intrinsic f...

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Detalles Bibliográficos
Autores principales: Ruan, Jing, Han, Bing, Zhuang, Junling, Chen, Miao, Chen, Fangfei, Huang, Yuzhou, Zhou, Wenzhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654184/
https://www.ncbi.nlm.nih.gov/pubmed/33172407
http://dx.doi.org/10.1186/s12881-020-01158-z