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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Detalles Bibliográficos
Autores principales: Macher, Hada C., Martinez-Broca, Maria A., Rubio-Calvo, Amalia, Leon-Garcia, Cristina, Conde-Sanchez, Manuel, Costa, Alzenira, Navarro, Elena, Guerrero, Juan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517603/
https://www.ncbi.nlm.nih.gov/pubmed/23236420
http://dx.doi.org/10.1371/journal.pone.0051024

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