假性后极部限制层综合征：一种常染色体显性遗传的玻璃体视网膜遗传性变性。《格拉夫临床与实验眼科学杂志》（1994年）232卷：16 - 24页 - Suppr

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The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission. Graefe's Arch Clin Exp Ophthalmol (1994) 232:16-24.

作者信息

Snead M P, Newmann D K, Poulson A, Scott J D

出版信息

Graefes Arch Clin Exp Ophthalmol. 1995 Dec;233(12):805-6. doi: 10.1007/BF00184095.

DOI:10.1007/BF00184095

PMID:8626092

Abstract

摘要

相似文献

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission. Graefe's Arch Clin Exp Ophthalmol (1994) 232:16-24.假性后极部限制层综合征：一种常染色体显性遗传的玻璃体视网膜遗传性变性。《格拉夫临床与实验眼科学杂志》（1994年）232卷：16 - 24页

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本文引用的文献

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).II型胶原蛋白（COL2A1）发生突变，用天冬氨酸替代α1-67位的甘氨酸，导致白内障和视网膜脱离：Wagner综合征和Stickler综合征（关节眼病）分子异质性的证据。

Am J Hum Genet. 1993 Jul;53(1):55-61.

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

Eye (Lond). 1994;8 ( Pt 6):609-14. doi: 10.1038/eye.1994.153.

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.一种斯蒂克勒综合征基因与6号染色体上靠近COL11A2基因的位置相连。

Hum Mol Genet. 1994 Sep;3(9):1561-4. doi: 10.1093/hmg/3.9.1561.

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113.

Congenital myopia and retinal detachment.

Trans Ophthalmol Soc U K (1962). 1980 Apr;100(Pt 1):69-71.

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

Am J Med Genet. 1983 Oct;16(2):189-99. doi: 10.1002/ajmg.1320160209.

A highly polymorphic region 3' to the human type II collagen gene.人类II型胶原蛋白基因3'端的一个高度多态性区域。

Nucleic Acids Res. 1985 Jul 11;13(13):4613-22. doi: 10.1093/nar/13.13.4613.

Identification and characterization of the human type II collagen gene (COL2A1).人类Ⅱ型胶原蛋白基因（COL2A1）的鉴定与特性分析

Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9. doi: 10.1073/pnas.82.9.2555.

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.斯蒂克勒综合征：与II型胶原蛋白结构基因紧密连锁的证据。

Genomics. 1987 Dec;1(4):293-6. doi: 10.1016/0888-7543(87)90027-9.

Duke-Elder lecture. Prevention and perspective in retinal detachment.

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