Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
导致高胰岛素血症-多囊肾病的磷酸甘露醇变位酶 2 (PMM2) 变异与早发性炎症性肠病和胃窦小凹增生有关
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-023-02523-7
Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grünewald, Holm H Uhlig, Robert Kleta, Detlef Böckenhauer, Kelsey D J Jones
