Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male

De novo somatic mutations are well documented in diseases such as neoplasia but are rarely reported in rare diseases. Hovewer, severe genetic diseases that are not compatible with embryonic development are caused exclusively by deleterious mutations that could only be found as mosaic and not as inhe...

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Detalles Bibliográficos
Autores principales: Pescatore, Alessandra, Spinosa, Ezia, Casale, Carmela, Lioi, Maria Brigida, Ursini, Matilde Valeria, Fusco, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835834/
https://www.ncbi.nlm.nih.gov/pubmed/35163099
http://dx.doi.org/10.3390/ijms23031179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835834/
https://www.ncbi.nlm.nih.gov/pubmed/35163099
http://dx.doi.org/10.3390/ijms23031179

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