Abstract:
:The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type I category of ad RP).
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Saga M,Mashima Y,Akeo K,Oguchi Y,Kudoh J,Shimizu Ndoi
10.3109/13816819409098865subject
Has Abstractpub_date
1994-06-01 00:00:00pages
61-7issue
2eissn
1381-6810issn
1744-5094journal_volume
15pub_type
杂志文章abstract::Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were ide...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1855664
更新日期:2020-12-10 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1136336
更新日期:2017-01-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.755552
更新日期:2013-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.20.3.173.2282
更新日期:1999-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.2.87.2322
更新日期:1998-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2008-12-01 00:00:00
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journal_title:Ophthalmic genetics
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更新日期:2007-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2019.1666880
更新日期:2019-10-01 00:00:00
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journal_title:Ophthalmic genetics
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更新日期:1995-12-01 00:00:00
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更新日期:2020-04-01 00:00:00
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更新日期:2001-09-01 00:00:00
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更新日期:2021-01-03 00:00:00
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pub_type: 杂志文章
doi:10.1080/13816810500229025
更新日期:2005-09-01 00:00:00
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更新日期:2018-08-01 00:00:00
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