一种与严重眼部表型相关的新型诺里病错义突变。
A novel missense Norrie disease mutation associated with a severe ocular phenotype.
作者信息
Khan Arif O, Shamsi Farrukh A, Al-Saif Amr, Kambouris Marios
机构信息
King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
出版信息
J Pediatr Ophthalmol Strabismus. 2004 Nov-Dec;41(6):361-3. doi: 10.3928/01913913-20041101-10.
PMID:15609522
Abstract
Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.
摘要
临床检查结果和系谱分析确诊了两兄弟患有严重的诺里病。DNA测序显示了一种新的错义突变（703G>T），该突变显著改变了预测的蛋白质结构。不太严重的视网膜发育疾病可能与诺里病基因中较轻微的突变有关。
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