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Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS
Objective: To describe the clinical presentation and novel mutation in the coxsackie and adenovirus receptor-like membrane protein (CLMP) gene in a Chinese family with congenital short bowel syndrome (CSBS). Methods: We collected clinical data from a Chinese family with inherited CSBS, and performed...
Autores principales: | Ou, Fen-fen, Li, Ming-jie, Mei, Li-bin, Lin, Xin-Zhu, Wu, Yan-an |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802778/ https://www.ncbi.nlm.nih.gov/pubmed/35111702 http://dx.doi.org/10.3389/fped.2021.778859 |
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