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- [34] Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutationJOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (05) : 801 - 812Nakajima, YokoMeijer, JudithDobritzsch, DoreenIto, TetsuyaMeinsma, RutgerAbeling, Nico G. G. M.Roelofsen, JeroenZoetekouw, LidaWatanabe, YorikoTashiro, KyokoLee, TomokoTakeshima, YasuhiroMitsubuchi, HiroshiYoneyama, AkiraOhta, KazuhideEto, KaoruSaito, KayokoKuhara, Tomikovan Kuilenburg, Andre B. P.
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- [36] The novel p.G1501R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G > A COUA1 splicing mutation leads to mild dystrophic epidermolysis bullosaJOURNAL OF DERMATOLOGICAL SCIENCE, 2009, 53 (03) : 222 - 225Drera, B.Ritelli, M.Zoppi, N.Barlati, S.Colombi, M.Tadini, G.Venturini, M.Calzavara-Pinton, P. G.
- [37] A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cordJournal of Human Genetics, 2019, 64 : 979 - 983Chengyuan SongLinliu PengShengjun WangYiming Liu
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- [39] A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R geneBRITISH JOURNAL OF DERMATOLOGY, 2009, 161 (02) : 468 - 469Oiso, N.Kishida, K.Fukai, K.Motokawa, T.Hosomi, N.Suzuki, T.Mitsuhashi, Y.Tsuboi, R.Kawada, A.