Familial STAG2 germline mutation defines a new human cohesinopathy

Familial STAG2 germline mutation defines a new human cohesinopathy

Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—Núcleo de Genética Médica, Brazil, and Hongta...

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Autores principales: Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/3329248fd048435d97c88eef013b1831
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