,VCP

Annelise Y Mah-Som1, Jil Daw2, Diana Huynh3

  • 1Genetics Training Program, Harvard Medical School and Brigham & Women's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

PubMed
概括

含有瓦洛辛蛋白 (VCP) 的基因变异会导致儿童出现新的神经发育障碍,与成人发病的VCP蛋白质病症不同. 这项研究确定了与发育迟缓和智力障碍相关的新型VCP变体.

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