瓦格纳玻璃体视网膜变性中胶原蛋白2A1组织特异性可变剪接外显子的移码突变。 - Suppr

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A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

作者信息

Snead Martin, Richards Allan

出版信息

Am J Ophthalmol. 2002 Sep;134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5.

DOI:10.1016/s0002-9394(02)01635-5

PMID:12208278

Abstract

摘要

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A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

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Aust J Ophthalmol. 1980 Feb;8(1):29-33. doi: 10.1111/j.1442-9071.1980.tb00885.x.

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Snowflake vitreoretinal degeneration: follow-up of the original family.

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引用本文的文献

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.

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相似文献

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Am J Ophthalmol. 2002 Sep;134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5.

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Am J Ophthalmol. 2002 Feb;133(2):203-10. doi: 10.1016/s0002-9394(01)01339-3.

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

Am J Ophthalmol. 2002 Nov;134(5):720-7. doi: 10.1016/s0002-9394(02)01638-0.

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5.

[Pathology of the vitreoretinal interface].

J Fr Ophtalmol. 1985;8(4):353-69.

Vitrectomy and Wagner's vitreoretinal degeneration.

Am J Ophthalmol. 1978 Oct;86(4):485-8. doi: 10.1016/0002-9394(78)90293-3.

Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia.

Acta Ophthalmol (Copenh). 1982 Jun;60(3):469-74. doi: 10.1111/j.1755-3768.1982.tb03040.x.

Wagner's hereditary vitreoretinal degeneration.

Aust J Ophthalmol. 1980 Feb;8(1):29-33. doi: 10.1111/j.1442-9071.1980.tb00885.x.

Stickler syndrome.

Ophthalmology. 2008 Sep;115(9):1636-7; author reply 1637-8. doi: 10.1016/j.ophtha.2008.04.018.

Snowflake vitreoretinal degeneration: follow-up of the original family.

Ophthalmology. 2003 Dec;110(12):2418-26. doi: 10.1016/S0161-6420(03)00828-5.

引用本文的文献

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.