Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

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Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture f...

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Bibliographic Details
Main Authors: Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani
Format: Article
Language:English
Published: Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS) 2014-11-01
Series:Clinical and Biomedical Research
Subjects:
Prenatal diagnosis
molecular analysis
genetic counselling
Online Access:http://seer.ufrgs.br/index.php/hcpa/article/view/49872
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