Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Asami Kuno"'
Autor:
Yuri Funamoto, Arisa Nagatani, Hidetoshi Uchida, Asami Kuno, Tetsushi Yoshikawa, Yuya Ouchi, Masafumi Miyata, Hiroki Kurahashi, Tadayoshi Hata, Hidehito Inagaki, Hiroko Boda, Nobue Takaiso, Naoko Fujita
Publikováno v:
Journal of Human Genetics. 61:701-703
Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0efaa59e102e1278baa605e8737020aa
https://doi.org/10.1038/jhg.2016.32
https://doi.org/10.1038/jhg.2016.32
Autor:
Kawai, Miki1,2 (AUTHOR), Kato, Takema1 (AUTHOR), Tsutsumi, Makiko1 (AUTHOR), Shinkai, Yasuko1 (AUTHOR), Inagaki, Hidehito1 (AUTHOR), Kurahashi, Hiroki1,2 (AUTHOR) kura@fujita-hu.ac.jp
Publikováno v:
Molecular Genetics & Genomic Medicine. Dec2020, Vol. 8 Issue 12, p1-11. 11p.
Autor:
Kato, Takema, Ouchi, Yuya, Inagaki, Hidehito, Makita, Yoshio, Mizuno, Seiji, Kajita, Mitsuharu, Ikeda, Toshiro, Takeuchi, Kazuhiro, Kurahashi, Hiroki
Publikováno v:
Cytogenetic & Genome Research; Jan2018, Vol. 153 Issue 1, p1-9, 9p, 1 Diagram, 4 Graphs