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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
