Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins

Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins

A síndrome de Treacher Collins (STC) é um distúrbio do desenvolvimento craniofacial de herança autossômica dominante causada por mutações no gene TCOF1, localizado no cromossomo 5 (5q32). Utilizando as técnicas de SSCP e seqüenciamento, estabelecemos um método eficiente para a detecção de mutações n...

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Bibliographic Details
Main Author:	Splendore, Alessandra Della Casa
Other Authors:	Bueno, Maria Rita dos Santos e Passos
Format:	Others
Language:	pt
Published:	Biblioteca Digitais de Teses e Dissertações da USP 2002
Subjects:	detecção de mutação mutation screening síndrome de Treacher Collins SSCP TCOF1 Treacher Collins syndrome
Online Access:	http://www.teses.usp.br/teses/disponiveis/41/41131/tde-22092004-222503/

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