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Updated: May 12, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

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涉及<斜体>COL4A1</斜体>和<斜体>COL4A2</斜体>的相邻基因删除在患有薄底膜脏病的患者中:一个病例报告

Marc Henein1, Felicia Russo1,2, Chantal Bernard3

  • 1Division of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.

Nephron
|November 21, 2025
PubMed
概括

对于脏结构至关重要的 COL4A1 和 COL4A2 基因的功能丧失变异可能导致薄底膜脏病和慢性脏病 (CKD). 这项研究强调了一名患有影响这些基因的大缺失的患者,导致CKD.

关键词:
在 COL4A1A1 中使用.在 COL4A2 中使用.薄底层膜神经病变 - 薄底层膜神经病变

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