A C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.

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Title: A C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.
Authors: Watanabe D; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan.; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan., Katsumata N; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Saito T; Department of Pediatrics, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Murasawa R; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Hagino R; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Murakami Y; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Shinohara T; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Maebayashi Y; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Nemoto A; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan., Naitoh A; Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan.
Source: Congenital anomalies [Congenit Anom (Kyoto)] 2026 Jan-Dec; Vol. 66 (1), pp. e70043.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1741-4520
DOI:10.1002/cga.70043