营养不良
视网膜色素上皮
突变
医学
遗传学
视网膜
基因
基因突变
视网膜
眼科
生物
神经科学
作者
Francesco Testa,Valéria Marini,Settimio Rossi,Emanuela Interlandi,Anna Nesti,Michele Rinaldi,Monica Varano,Cecilia Garrè,Francesca Simonelli
标识
DOI:10.1136/bjo.2004.064188
摘要
A novel mutation in the RDS gene in an Italian family with pattern dystrophyThe term ''pattern dystrophy'' (PD) of the retina refers to a group of inherited dystrophies characterised by deposition of abnormal pigment at the level of retinal pigment epithelium (RPE). 1 Several studies have correlated PD with mutations in the RDS gene. 2-7Therefore,
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