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.
Article
ي Zh
| WPRIM
| ID: wpr-332167
المكتبة المسؤولة:
WPRO
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.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Therapeutics
/
Chromosomes, Human, Pair 1
/
DNA Mutational Analysis
/
Cell Adhesion Molecules
/
Corneal Dystrophies, Hereditary
/
Diagnosis
/
Epithelial Cell Adhesion Molecule
/
Genetics
/
Mutation
/
Antigens, Neoplasm
نوع الدراسة:
Diagnostic_studies
المحددات:
Humans
اللغة:
Zh
مجلة:
Journal of Zhejiang University. Medical sciences
السنة:
2006
نوع:
Article