Functional prediction of the potential NGLY1 mutations associated with rare disease CDG

Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal recessive disease known as congenital disorde...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Shuying Yuan, Yanwen Chen, Lin Zou, Xinrong Lu, Ruijie Liu, Shaoxing Zhang, Yuxin Zhang, Cuiying Chen, Dongqing Cheng, Li Chen, Guiqin Sun
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Elsevier 2024-04-01
سلاسل:	Heliyon
الموضوعات:	Deglycosylation Enzymatic activity Gain of function mutation PNGase Rare disease
الوصول للمادة أونلاين:	http://www.sciencedirect.com/science/article/pii/S2405844024048187
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!