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Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.
Ozono K, Michigami T. Ozono K, et al. Among authors: michigami t. J Hum Genet. 2011 Mar;56(3):174-6. doi: 10.1038/jhg.2011.6. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307860 No abstract available.
Identification of CUBN variants in triplets with a 20-year history of proteinuria.
Yamamura-Miyazaki N, Sakakibara N, Nozu K, Shima Y, Satomura K, Yamamoto S, Baba M, Fujiwara K, Yamamoto K, Michigami T. Yamamura-Miyazaki N, et al. Among authors: michigami t. CEN Case Rep. 2024 Aug 5. doi: 10.1007/s13730-024-00919-6. Online ahead of print. CEN Case Rep. 2024. PMID: 39102129 Free article.
163 results