Polipose associada ao MYH: fenótipo grave na homozigotia para a mutação 1103delC.
MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mu...
Main Authors: | Susana Mão De Ferro, Pedro Lage, Alexandra Suspiro, Paulo Fidalgo, Sofia Fragoso, Célia Baltazar, Inês Vitoriano, Paula Rodrigues, Cristina Albuquerque, C Nobre Leitão |
---|---|
Format: | Article |
Language: | English |
Published: |
Ordem dos Médicos
2007-07-01
|
Series: | Acta Médica Portuguesa |
Online Access: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/851 |
Similar Items
-
MACROTROMBOCITOPENIA RELACIONADA À MUTAÇÃO GENE MYH9
by: AA Araujo, et al.
Published: (2023-10-01) -
Diagnóstico genético da polipose adenomatosa familiar: detecção de mutações no gene APC com base na análise da proteína sintetizada in vitro.
by: C Albuquerque, et al.
Published: (1998-01-01) -
RARA MUTAÇÃO NO ELEMENTO REGULATÓRIO GATA ERITRÓIDE-ESPECÍFICO LEVANDO AO FENÓTIPO BM
by: CP Arnoni, et al.
Published: (2023-10-01) -
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy
by: Pingping Ren, et al.
Published: (2021-07-01) -
CARACTERIZAÇÃO MOLECULAR DO FENÓTIPO RHD FRACO 38 EM DOADOR DE MEDULA ÓSSEA AFRODESCENDENTE COM NEUTROPENIA LEVE ASSOCIADA A MUTAÇÃO GATA: RELATO DE CASO
by: LD Santos, et al.
Published: (2023-10-01)