Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Dana T. Brožková"'
Autor:
Radim Mazanec, Pavlína Plevová, Zdeněk Rychlý, Pavel Seeman, Jiří Böhm, Jana Lisoňová, Jana Sabová, Dana T. Brožková, Iva Sakmaryová, Jana Haberlová, Jan Staněk
Publikováno v:
Muscle & Nerve. 44:819-821
We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregat
Autor:
Michael Hummel, Thottala Jayaraman, Eduardo E. Castilla, Juan C. Mereb, Dana T. Brožková, Timothy D. Ruff, Alexandre R. Vieira, José Mauro Granjeiro, Jessica Briseño-Ruiz, Hong Yuan Hsin, Mary L. Marazita, Jessalyn Forella, Marcelo de Castro Costa, Leonardo Santos Antunes, Shankar Revu, Merve Bayram, Regina C. Sencak, Erika Calvano Küchler, Megan L. Weber, Kathleen Deeley, Lívia Azeredo Alves Antunes, Vanessa M. Trombetta, Fernando A. Poletta, Hongjiao Ouyang, Patricia Nivoloni Tannure, Fernanda Volpe de Abreu, Iêda M. Orioli, Figen Seymen, Mine Koruyucu, Ersan Kalay, Takehiko Shimizu, Asli Patir
Publikováno v:
BMC Medical Genetics
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
BACKGROUND: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. METHODS: We tested