著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Laura Fugazzola and Valentina Cirello and Silvia Dossena and Simona Rodighiero and Marina Muzza and Pierangela Castorina and Faustina Lalatta and Umberto Ambrosetti and Paolo Beck-Peccoz and Guido Bottà and Markus Paulmichl,High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein,European Journal of Endocrinology,0804-4643,Oxford University Press (OUP),2007-09,157,3,331-338,https://cir.nii.ac.jp/crid/1361137044341722112,https://doi.org/10.1530/eje-07-0263