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Updated: Jul 19, 2026

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临床验证CRX变异导致形-形变的临床验证

Camila Pagán-Melvin1, Natalio Izquierdo2, Karla C Alejandro2

  • 1Ophthalmology, Universidad Central del Caribe, Bayamon, PRI.

Cureus
|March 17, 2026
PubMed
概括

由CRX基因突变引起的圆杆缩症 (CORD) 会导致视力丧失. 准确的诊断依赖于将患者的症状与遗传发现相关联,特别是在CRX变异中.

关键词:
圆杆缩症 圆杆缩症 圆杆缩症这种基因是CRX基因.基因型-表型相关性相关性遗传性视网膜损伤症 遗传性视网膜损伤症变种重新分类变种重新分类

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相关概念视频

X-ray Diffraction of Biological Samples01:10

X-ray Diffraction of Biological Samples

X-ray diffraction or XRD is an analytical tool that utilizes X-rays to study ordered structures such as crystalline organic and inorganic samples, polycrystalline materials, proteins, carbohydrates, and drugs.
According to Bragg's law, when X-rays strike the sample positioned on a stage, the rays are  scattered by the electron clouds around the sample atoms. The  X-ray diffraction or scattering is caused by constructive interference of the X-ray waves that reflect off the internal crystal...