Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy.
作者信息
Yamamoto R, Li X, Francke U, Kilimann M W
出版信息
Am J Hum Genet. 1995 Oct;57(4):970-2.
Abstract
摘要
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本文引用的文献
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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.7号染色体短臂上常染色体显性遗传性视网膜色素变性的一个新基因座。
Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51.
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Alteration of a yeast SH3 protein leads to conditional viability with defects in cytoskeletal and budding patterns.酵母SH3蛋白的改变导致条件性生存能力，并伴有细胞骨架和出芽模式缺陷。
Mol Cell Biol. 1993 Aug;13(8):5070-84. doi: 10.1128/mcb.13.8.5070-5084.1993.
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The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer.与突触小泡相关的蛋白 amphiphysin 是伴乳腺癌的僵人综合征的 128-kD 自身抗原。
J Exp Med. 1993 Dec 1;178(6):2219-23. doi: 10.1084/jem.178.6.2219.
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Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).常染色体显性遗传性视网膜色素变性在7号染色体p臂上的定位（RP9）的进一步细化。
Am J Hum Genet. 1994 Apr;54(4):675-80.
5
Autoimmunity in stiff-Man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161.
FEBS Lett. 1994 Aug 29;351(1):73-9. doi: 10.1016/0014-5793(94)00826-4.
6
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.
Hum Mol Genet. 1994 Feb;3(2):299-302. doi: 10.1093/hmg/3.2.299.
7
Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.人发动蛋白的一级结构，副肿瘤性僵人综合征的主要自身抗原，及其基因（AMPH）在染色体7p13-p14上的定位。
Hum Mol Genet. 1995 Feb;4(2):265-8. doi: 10.1093/hmg/4.2.265.
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Yeast mutant affected for viability upon nutrient starvation: characterization and cloning of the RVS161 gene.
Yeast. 1991 Oct;7(7):727-43. doi: 10.1002/yea.320070708.
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Amphiphysin, a novel protein associated with synaptic vesicles.发动蛋白，一种与突触小泡相关的新型蛋白质。
EMBO J. 1992 Jul;11(7):2521-30. doi: 10.1002/j.1460-2075.1992.tb05317.x.
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