A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy

Chronic enteropathy associated with SLCO2A1 gene (CEAS) is caused by loss-of-function mutations in SLCO2A1, which encodes a prostaglandin (PG) transporter. In this study, we report a sibling case of CEAS with a novel pathogenic variant of the SLCO2A1 gene. Compound heterozygous variants in SLCO2A1 w...

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Detalles Bibliográficos
Autores principales: Jimbo, Keisuke, Okuno, Toshiaki, Ohgaki, Ryuichi, Nishikubo, Kou, Kitamura, Yuri, Sakurai, Yumiko, Quan, Lili, Shoji, Hiromichi, Kanai, Yoshikatsu, Shimizu, Toshiaki, Yokomizo, Takehiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652309/
https://www.ncbi.nlm.nih.gov/pubmed/33166338
http://dx.doi.org/10.1371/journal.pone.0241869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652309/
https://www.ncbi.nlm.nih.gov/pubmed/33166338
http://dx.doi.org/10.1371/journal.pone.0241869

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