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Updated: Jan 17, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography

Published on: August 11, 2016

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从白到白化:OCA2第10个外形跳转到低颜色变化的贡献

Elina Mercier1, David-Alexandre Trégouët2, Sébastien Campagne3

  • 1Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.

PLoS genetics
|September 25, 2025
PubMed
概括

在OCA2基因的变异影响异构体10跳转,影响人类的色素和白化. 这项研究揭示了像rs1800404-T这样的常见变体如何影响拼接和皮肤/头发颜色.

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