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Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Tanigawa J, et al. Among authors: muramatsu y. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. Kato T, et al. Among authors: muramatsu y. Hum Genet. 2020 Nov;139(11):1417-1427. doi: 10.1007/s00439-020-02186-8. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488466
670 results