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PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM. Salian S, et al. Among authors: kinoshita t. Hum Genet. 2021 Jun;140(6):879-884. doi: 10.1007/s00439-020-02251-2. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33386993
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A. Almeida AM, et al. Among authors: kinoshita t. Nat Med. 2006 Jul;12(7):846-51. doi: 10.1038/nm1410. Epub 2006 Jun 11. Nat Med. 2006. PMID: 16767100
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH).
Inoue N, Izui-Sarumaru T, Murakami Y, Endo Y, Nishimura J, Kurokawa K, Kuwayama M, Shime H, Machii T, Kanakura Y, Meyers G, Wittwer C, Chen Z, Babcock W, Frei-Lahr D, Parker CJ, Kinoshita T. Inoue N, et al. Among authors: kinoshita t. Blood. 2006 Dec 15;108(13):4232-6. doi: 10.1182/blood-2006-05-025148. Epub 2006 Aug 29. Blood. 2006. PMID: 16940417 Free PMC article.
3,463 results