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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Terapéutica
/
Cromosomas Humanos Par 1
/
Análisis Mutacional de ADN
/
Moléculas de Adhesión Celular
/
Distrofias Hereditarias de la Córnea
/
Diagnóstico
/
Molécula de Adhesión Celular Epitelial
/
Genética
/
Mutación
/
Antígenos de Neoplasias
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2006
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS