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Autor:
Yoshio Terada, Yuriko Katsushima, Daniel G. Bichet, Marie-Françoise Arthus, Michio Kuwahara, Michèle Lonergan, Toru Ooeda, Itsuki Shinbo, Eishin Ogawa, Sei Sasaki, Fumiaki Marumo, Shinichi Uchida, Kazuyuki Iwai, T. Mary Fujiwara, Takashi Igarashi
Publikováno v:
The American Journal of Human Genetics. 69:738-748
The vasopressin-regulated water channel aquaporin-2 (AQP2) is known to tetramerize in the apical membrane of the renal tubular cells and contributes to urine concentration. We identified three novel mutations, each in a single allele of exon 4 of the