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The minisequencing method: a simple strategy for genetic screening of MEN 2 families

BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata. Activating germline mutations of t...

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Detalles Bibliográficos
Autores principales: Bugalho, Maria João, Domingues, Rita, Sobrinho, Luís
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC116428/
https://www.ncbi.nlm.nih.gov/pubmed/12042015
http://dx.doi.org/10.1186/1471-2156-3-8