Novel Compound Heterozygous Variants in <i>TBCD</i> Gene Associated with Infantile Neurodegenerative Encephalopathy

• المؤلفون الرئيسيون: Chih-Ling Chen (مؤلف), Chien-Nan Lee (مؤلف), Yin-Hsiu Chien (مؤلف), Wuh-Liang Hwu (مؤلف), Tung-Ming Chang (مؤلف), Ni-Chung Lee (مؤلف)
• التنسيق: كتاب
• منشور في: MDPI AG, 2021-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Mutations in tubulin-specific chaperon D (TBCD), the gene encoding one of the co-chaperons required for the assembly and disassembly of the α/β-tubulin heterodimers, have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disord...