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...
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 |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3517603?pdf=render |
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