Targeted massively parallel sequencing for congenital generalized lipodystrophy

Targeted massively parallel sequencing for congenital generalized lipodystrophy

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 rec...

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Bibliographic Details
Main Authors: Aline D. Costa-Riquetto, Lucas S. Santana, Lílian A. Caetano, Antônio M. Lerário, Joya E. M. Correia-Deur, Débora R. Bertola, Chong A. Kim, Márcia Nery, Alexander A. L. Jorge, Milena G. Teles
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism 2020-08-01
Series:Archives of Endocrinology and Metabolism
Subjects:
Congenital generalized lipodystrophy
Berardinelli-Seip syndrome
massively parallel sequencing
deep sequencing
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559&tlng=en

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