A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1.
Artigo
em Inglês
| IMSEAR
| ID: sea-40362
ABSTRACT
Multiple endocrine neoplasia type 1, caused by the mutation in the MEN1 gene, is an autosomal dominant disorder with over 95% penetrance characterized by hyperparathyroidism, pancreatic endocrine tumor and pituitary tumor. The authors performed a molecular analysis to identify a mutation in a Thai man with MEN1. He was found to be heterozygous for IVS6 + 1G to A. Two of his three children were also found to carry this mutation. The newly available genetic test for patients with MEN1 in Thailand makes it possible to accurately DNA-based diagnose clinically suspected individuals and their presymptomatic members, which has important therapeutic impacts on them.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Tailândia
/
Feminino
/
Humanos
/
Masculino
/
Mutação em Linhagem Germinativa
/
Neoplasia Endócrina Múltipla Tipo 1
/
Adulto
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2005
Tipo de documento:
Artigo
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