Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Reikichi Shoji"'
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Abstract We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequen
Externí odkaz:
https://doaj.org/article/7861164f1f41411286e57cacff4d64ef
Publikováno v:
Transl Pediatr
Raoultella planticola was previously considered an environmental organism in soil, water, and plants. However, several cases of human infection have recently been reported in association with R. planticola, some of which have been life-threatening. M
Publikováno v:
Nihon Kikan Shokudoka Gakkai Kaiho. 47:21-24