Targeted massively parallel sequencing for congenital generalized lipodystrophy

OBJECTIVE: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). SUBJECTS AND METHODS: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We...

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Detalles Bibliográficos
Autores principales: Costa-Riquetto, Aline D., Santana, Lucas S., Caetano, Lílian A., Lerário, Antônio M., Correia-Deur, Joya E. M., Bertola, Débora R., Kim, Chong A., Nery, Márcia, Jorge, Alexander A. L., Teles, Milena G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118969/
https://www.ncbi.nlm.nih.gov/pubmed/34033296
http://dx.doi.org/10.20945/2359-3997000000278

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118969/
https://www.ncbi.nlm.nih.gov/pubmed/34033296
http://dx.doi.org/10.20945/2359-3997000000278

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