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	3641.	Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. [electronic resource] by Jonca, Nathalie Leclerc, Emilie A Caubet, Cécile Simon, Michel Guerrin, Marina Serre, Guy Producer: 20110901 In: European journal of dermatology : EJD vol. 21 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3642.	A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. [electronic resource] by Kamamoto, M Machida, J Miyachi, H Ono, T Nakayama, A Shimozato, K Tokita, Y Producer: 20110822 In: International journal of oral and maxillofacial surgery vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3643.	Nonsense mediated decay resistant mutations are a source of expressed mutant proteins in colon cancer cell lines with microsatellite instability. [electronic resource] by Williams, David S Bird, Matthew J Jorissen, Robert N Yu, Yen Lin Walker, Francesca Walker, Franscesa Zhang, Hui Hua Nice, Edouard C Burgess, Antony W Producer: 20110705 In: PloS one vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3644.	Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. [electronic resource] by Zhou, Yong Jiang, Qiujie Takahagi, Shunsuke Shao, Changxia Uitto, Jouni Producer: 20140108 In: The Journal of investigative dermatology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3645.	A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1. [electronic resource] by Herbert, Brittney-Shea Grimes, Brenda R Xu, Wei Min Werner, Michael Ward, Christopher Rossetti, Sandro Harris, Peter Bello-Reuss, Elsa Ward, Heather H Miller, Caroline Gattone, Vincent H Phillips, Carrie L Wandinger-Ness, Angela Bacallao, Robert L Producer: 20130722 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3646.	Natural variant of collagen-like protein a in serotype M3 group a Streptococcus increases adherence and decreases invasive potential. [electronic resource] by Flores, Anthony R Jewell, Brittany E Versalovic, Erika M Olsen, Randall J Bachert, Beth A Lukomski, Slawomir Musser, James M Producer: 20150413 In: Infection and immunity vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3647.	Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. [electronic resource] by Lee, Ming-Yang Wang, Hui-Jun Han, Ying Zhou, Yun Zhao, Jia-Hui Duo, Li-Na Feng, Cheng Hua, Hong Liu, Hong-Wei Lin, Zhi-Miao Yang, Yong Producer: 20160127 In: Acta dermato-venereologica vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3648.	Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1. [electronic resource] by Leidenz, Franciele B Bastos-Rodrigues, Luciana Oliveira, Marcelo Mamede, Marcelo Sarquis, Marta Friedman, Eitan de Marco, Luiz Producer: 20160404 In: Genetics research vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3649.	Regulation of the phosphorylation and nuclear import and export of β-catenin by APC and its cancer-related truncated form. [electronic resource] by Wang, Lili Liu, Xiaoyong Gusev, Ekaterina Wang, Chuanxin Fagotto, François Producer: 20141205 In: Journal of cell science vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3650.	Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. [electronic resource] by Huh, Ji Young Kwon, Min-Jung Seo, Kyu Young Kim, Moon Kyu Chae, Kyu Young Kim, Se Hoon Ki, Chang-Seok Yoon, Moon Soo Kim, Dong Hyun Producer: 20150515 In: The Journal of dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3651.	Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. [electronic resource] by Zobor, Ditta Balousha, Ghassan Baumann, Britta Wissinger, Bernd Producer: 20140930 In: Molecular vision vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	3652.	Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration. [electronic resource] by Duncan, Jacque L Biswas, Pooja Kozak, Igor Navani, Mili Syed, Reema Soudry, Shiri Menghini, Moreno Caruso, Rafael C Jeffrey, Brett G Heckenlively, John R Reddy, G Bhanuprakash Lee, Pauline Roorda, Austin Ayyagari, Radha Producer: 20160914 In: Ophthalmic genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3653.	Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation. [electronic resource] by Zhang, Min Wang, Jie Jiang, Jingjing Zhan, Xiaohui Ling, Yan Lu, Zhiqiang Guo, Jianming Gao, Xin Producer: 20151111 In: Endocrine vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3654.	A comprehensive, high-resolution map of a gene's fitness landscape. [electronic resource] by Firnberg, Elad Labonte, Jason W Gray, Jeffrey J Ostermeier, Marc Producer: 20150109 In: Molecular biology and evolution vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3655.	An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients. [electronic resource] by Park, Kui Young Li, Kapsok Seok, Joon Seo, Seong Jun Producer: 20170222 In: Journal of Korean medical science vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3656.	A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. [electronic resource] by Zemrani, Boutaina Cachat, François Bonny, Olivier Giannoni, Eric Durig, Jacques Fellmann, Florence Chehade, Hassib Producer: 20161017 In: European journal of medical research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3657.	A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria. [electronic resource] by AlTassan, Ruqaiah Bubshait, Dalal Imtiaz, Faiqa Rahbeeni, Zuhair Producer: 20180927 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3658.	Selective profiling of ribosomes associated with yeast Upf proteins. [electronic resource] by Ganesan, Robin Leszyk, John Jacobson, Allan Producer: 20191121 In: Methods (San Diego, Calif.) vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3659.	Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations. [electronic resource] by Huang, Lulu Aghajan, Mariam Quesenberry, Tianna Low, Audrey Murray, Susan F Monia, Brett P Guo, Shuling Producer: 20200826 In: Nucleic acid therapeutics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3660.	Somatic mutation in the two HLA-B genes of a patient with acute myelogenous leukemia. [electronic resource] by Balas, Antonio Planelles, Dolores Goterris, Rosa Rodríguez-Cebriá, Manuel Vicario, José L Producer: 20200708 In: HLA vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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