Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients aff...

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Bibliographic Details
Main Authors: Hada C Macher, Maria A Martinez-Broca, Amalia Rubio-Calvo, Cristina Leon-Garcia, Manuel Conde-Sanchez, Alzenira Costa, Elena Navarro, Juan M Guerrero
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3517603?pdf=render

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http://europepmc.org/articles/PMC3517603?pdf=render

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