Knowledge about globin genetics for precision diagnosis of hemoglobinopathies: A case Study​​on March 13, 2025 at 7:28 am

Publication date: March 2025 Source: Clinical Biochemistry, Volume 136 Author(s): Bárbara Braga Vieira Marques, Ingrid Souza Dias, Amanda Cristina Meneguetti Berti, Vanessa da Silveira Ramos de Castro, Elisângela de Souza Miranda Muynarsk, Taís Pires Terra Araújo, Eduardo dos Santos Itacaramby, Lucas Gazarini, Danilo Grünig Humberto da Silva, Edis Belini-Júnior

KNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency​​on March 13, 2025 at 7:28 am

Publication date: March 2025 Source: Clinical Biochemistry, Volume 136 Author(s): Xiaoying Lv, Pingping Li, Ying Gui, Caili Qin, Shan Huang, Yunwei Qi, Huaping Chen, Fuyong Zhang

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