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A genetic and developmental biological approach for a family with complex congenital heart diseases-evidence of digenic inheritance.
Yoshida Y, Uchida K, Kodo K, Ishizaki-Asami R, Maeda J, Katsumata Y, Yuasa S, Fukuda K, Kosaki K, Watanabe Y, Nakagawa O, Yamagishi H. Yoshida Y, et al. Among authors: uchida k. Front Cardiovasc Med. 2023 Apr 25;10:1135141. doi: 10.3389/fcvm.2023.1135141. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37180804 Free PMC article.
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: uchida k. J Hum Genet. 2024 May;69(5):215-222. doi: 10.1038/s10038-024-01225-w. Epub 2024 Feb 26. J Hum Genet. 2024. PMID: 38409496 Free PMC article.
Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: uchida k. J Hum Genet. 2024 May;69(5):223. doi: 10.1038/s10038-024-01238-5. J Hum Genet. 2024. PMID: 38459226 No abstract available.
5,759 results