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Targeted massively parallel sequencing for congenital generalized lipodystrophy

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

ABSTRACT 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 used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated...

Date: 2020 | Origin: Oasisbr

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