Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
نویسندگان
چکیده
منابع مشابه
wuthering heights and the concept of marality/a sociological study of the novel
to discuss my point, i have collected quite a number of articles, anthologies, and books about "wuthering heights" applying various ideas and theories to this fantastic story. hence, i have come to believe that gadamer and jauss are rightful when they claim that "the individaul human mind is the center and origin of all meaning," 3 that reading literature is a reader-oriented activity, that it ...
15 صفحه اولA frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
PURPOSE To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to characterize clinical findings for the patients associated with a 1085delC/insGAAG mutation in the RDH5 gene. METHODS Mutation screening by single-strand conformation polymorphism was performed on 6 patients with fundus albipunctatus and 150 patients with autosomal...
متن کاملLong-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
Report of a Case. A 56-year-old woman had a 2-month history of decreased vision and mild discomfort in the left eye. She had a history of penetrating injuryat theageof8years that led to traumatic cataract and corneal scarring in her left eye. Two years before we saw her, she had undergone uncomplicatedcombinedcataractextraction and lens implantation with penetrating keratoplasty elsewhere. Ther...
متن کاملA high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families ...
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ژورنال
عنوان ژورنال: Journal of Applied Genetics
سال: 2015
ISSN: 1234-1983,2190-3883
DOI: 10.1007/s13353-015-0281-x