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在土耳其系列中,临床和分子表征3A型和3B型粘多糖症

Bilge Noyan1,2, Nursel H Elcioglu1,3, Abdellah Tebani4

  • 1Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.

Molecular syndromology
|June 6, 2024
PubMed
概括

桑菲利波综合征 (MPS-3) 是一种罕见的遗传疾病. 这项研究在土耳其患者中发现了新的基因变异,有助于了解该地区的分子和流行病学方面.

关键词:
创始人效应是什么遗传学 遗传学 是一个Lysosomal 疾病是一种溶解体疾病.粘多糖糖症是什么 粘多糖症是什么圣菲利普波综合征是什么意思

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