Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 228-232, 2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-332167
ABSTRACT
Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. The gene responsible for GDLD, M1S1 is mapped on the short arm of chromosome 1 (1p), but the possible etiology of this disease remains unclear. Corneal transplantation is the only treatment for visual rehabilitation. The detection of the mutations of the M1S1 gene and the possible etiological involvement of the amyloid deposits are discussed. The current literatures are extensively reviewed in this article.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Cromossomos Humanos Par 1
/
Análise Mutacional de DNA
/
Moléculas de Adesão Celular
/
Distrofias Hereditárias da Córnea
/
Diagnóstico
/
Molécula de Adesão da Célula Epitelial
/
Genética
/
Mutação
/
Antígenos de Neoplasias
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2006
Tipo de documento:
Artigo
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