IDENTIFICATION OF LOSS-OF-FUNCTION MUTATIONS IN FILAGGRIN CAUSING ICHTHYOSIS VULGARIS AND PREDISPOSING TO OTHER DISEASES

• 1. IDENTIFICATION OF LOSS-OF-FUNCTION MUTATIONS IN FILAGGRIN CAUSING ICHTHYOSIS VULGARIS AND PREDISPOSING TO OTHER DISEASES [P] . 欧洲知识产权局专利： EP1960539A2 . 2008-08-27

  机译： 鉴定菲拉格菌素引起的腐殖质败血症和易患其他疾病的功能丧失突变

• 2. Identification of loss-of-function mutations in filaggrin causing ichthyosis vulgaris and predisposing to other diseases [P] . 英国专利： GB2447202A . 2008-09-03

  机译： 鉴定引起寻常鱼鳞病的丝聚蛋白功能丧失突变并易患其他疾病

• 3. Identification of loss-of-function mutations in filaggrin causing ichthyosis vulgaris and predisposing to other diseases [P] . 英国专利： GB0812834D0 . 2008-08-20

  机译： 鉴定引起寻常鱼鳞病的丝聚蛋白功能丧失突变并易患其他疾病

• 1. Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy(LGMD) 1G [J] . Cristina Batlle, Salvador Ventura 中国神经再生研究（英文版） . 2020,第012期
• 2. Diversity and interaction of common bacterial blight disease-causing bacteria (Xanthomonas spp.) with Phaseolus vulgaris L. [J] . Joab K.Tugume, Geoffrey Tusiime, Allan Male Sekamate, 作物学报（英文版） . 2019,第001期
• 3. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. [J] . Smith FJ, Irvine AD, Terron-Kwiatkowski A, Nature Genetics . 2006,第3期
• 4. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. [J] . Sandilands A, ORegan GM, Liao H, The Journal of investigative dermatology. . 2006,第8期
• 5. Ichthyosis vulgaris: The filaggrin mutation disease [J] . ThyssenJ.P., Godoy-GijonE., EliasP.M. British Journal of Dermatology . 2013,第6期
• 6. Fuzzy logic point of view applied to diseases caused by dynamic mutations [C] . Savic A., Jovanovic K., Mihailovic J., 12th IEEE International Symposium on Computational Intelligence and Informatics . 2011
• 7. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006
• 8. Ichthyosis vulgaris: the filaggrin mutation disease [O] . J.P. Thyssen, E. Godoy-Gijon, P.M. Elias -1
• 9. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis [O] . Sandilands, Aileen, O'Regan, Grainne M., Liao, Haihui, 2006

• 1. Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population [J] . Chang-Xing Li ,Quan Luo ,Xue-Mei Li . 健康（英文） . 2010,第12期
• 2. Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients [J] . Sheng Ye ,Liang Gong ,Quan-Xiang Shui . 世界胃肠病学杂志：英文版 . 2007,第38期
• 3. Raman Spectroscopy for Forensic Identification of Body Fluid Traces: Method Validation for Potential False Negatives Caused by Blood-Affecting Diseases [J] . Niara A. Nichols ,Igor K. Lednev . 美国分析化学(英文) . 2022,第1期
• 4. 抗体选择压引起H9N2 AIV抗原变异的氨基酸突变的鉴定及其诱导宿主特异性中和抗体的初探 [A] . 朱睿 . 2019