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	4021.	Germline E-cadherin mutations in familial lobular breast cancer. [electronic resource] by Masciari, S Larsson, N Senz, J Boyd, N Kaurah, P Kandel, M J Harris, L N Pinheiro, H C Troussard, A Miron, P Tung, N Oliveira, C Collins, L Schnitt, S Garber, J E Huntsman, D Producer: 20071129 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4022.	Mutation at tyrosine in AMLRY (GILRY like) motif of yeast eRF1 on nonsense codons suppression and binding affinity to eRF3. [electronic resource] by Susilowati, Prima Endang Madayanti, Fida Producer: 20080611 In: International journal of biological sciences vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4023.	Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis. [electronic resource] by Pedace, Lucia Majore, Silvia Megiorni, Francesca Binni, Francesco De Bernardo, Carmelilia Antigoni, Ivana Preziosi, Nicoletta Mazzilli, Maria Cristina Grammatico, Paola Producer: 20080603 In: Cancer genetics and cytogenetics vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4024.	Efficiency of the pioneer round of translation affects the cellular site of nonsense-mediated mRNA decay. [electronic resource] by Sato, Hanae Hosoda, Nao Maquat, Lynne E Producer: 20080326 In: Molecular cell vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4025.	Identification of a new gene required for the biosynthesis of rhodoquinone in Rhodospirillum rubrum. [electronic resource] by Lonjers, Zachary T Dickson, Erin L Chu, Thanh-Phuong T Kreutz, Jason E Neacsu, Florin A Anders, Kirk R Shepherd, Jennifer N Producer: 20120328 In: Journal of bacteriology vol. 194 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4026.	Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia. [electronic resource] by Kamei, Koichi Ogura, Masao Ishimori, Shingo Kaito, Hiroshi Iijima, Kazumoto Ito, Shuichi Producer: 20141006 In: European journal of pediatrics vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4027.	A hypomorphic mutation reveals a stringent requirement for the ATM checkpoint protein in telomere protection during early cell division in Drosophila. [electronic resource] by Morciano, Patrizia Zhang, Yi Cenci, Giovanni Rong, Yikang S Producer: 20140220 In: G3 (Bethesda, Md.) vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4028.	Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation. [electronic resource] by Ip, Joanna Y Schmidt, Dominic Pan, Qun Ramani, Arun K Fraser, Andrew G Odom, Duncan T Blencowe, Benjamin J Producer: 20110624 In: Genome research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4029.	Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing. [electronic resource] by Kondo, Yukiko Saitsu, Hirotomo Miyamoto, Toshinobu Lee, Byung Joo Nishiyama, Kiyomi Nakashima, Mitsuko Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Kim, Jeong Hun Yu, Young Suk Matsumoto, Naomichi Producer: 20130906 In: Molecular vision vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	4030.	The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation. [electronic resource] by Miyagawa, Maiko Nishio, Shin-Ya Sakurai, Yuika Hattori, Mitsuru Tsukada, Keita Moteki, Hideaki Kojima, Hiromi Usami, Shin-Ichi Producer: 20150818 In: The Annals of otology, rhinology, and laryngology vol. 124 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4031.	Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. [electronic resource] by Chen, Yabin Jia, Xiaoyun Wang, Panfeng Xiao, Xueshan Li, Shiqiang Guo, Xiangming Zhang, Qingjiong Producer: 20130906 In: Molecular vision vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	4032.	Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. [electronic resource] by Gerrard, Gareth Valgañón, Mikel Foong, Hui En Kasperaviciute, Dalia Iskander, Deena Game, Laurence Müller, Michael Aitman, Timothy J Roberts, Irene de la Fuente, Josu Foroni, Letizia Karadimitris, Anastasios Producer: 20131017 In: British journal of haematology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4033.	In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs. [electronic resource] by Lualdi, Susanna Del Zotto, Genny Zegarra-Moran, Olga Pedemonte, Nicoletta Corsolini, Fabio Bruschi, Maurizio Tomati, Valeria Amico, Giulia Candiano, Giovanni Dardis, Andrea Cooper, David N Filocamo, Mirella Producer: 20180413 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4034.	Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes. [electronic resource] by Manousaki, Despoina Kent, Jack W Haack, Karin Zhou, Sirui Xie, Pingxing Greenwood, Celia M Brassard, Paul Newman, Deborah E Cole, Shelley Umans, Jason G Rouleau, Guy Comuzzie, Anthony G Richards, J Brent Producer: 20171018 In: Diabetes care vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4035.	Nonsense-mediated mRNA decay: a 'nonsense' pathway makes sense in stem cell biology. [electronic resource] by Han, Xin Wei, Yanling Wang, Hua Wang, Feilong Ju, Zhenyu Li, Tangliang Producer: 20190703 In: Nucleic acids research vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4036.	Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer. [electronic resource] by Elimam, Alsmawal A Aabdein, Mohamed Elmogtba Mouaweia Mohamed Eldeen, Mohamed El-Fatih Moly Altayb, Hisham N Taha, Mohamed Adel Nimir, Mohammed N Dafaalla, Mohamed D Alfaki, Musaab M Abdelrahim, Mohamed A Abdalla, Abdelmohaymin A Mohammed, Musab I Ellaithi, Mona Hamid, Muzamil Mahdi Abdel Hassan, Mohamed Ahmed Salih Producer: 20170821 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4037.	Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. [electronic resource] by Andrejević, Slađana Korošec, Peter Šilar, Mira Košnik, Mitja Mijanović, Radovan Bonači-Nikolić, Branka Rijavec, Matija Producer: 20160621 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4038.	A single nucleotide insertion in Exon 3 produces a novel HLA-B58 null allele, HLA-B58:72N. [electronic resource] by Yang, K L Hung, J H Lin, P Y Producer: 20161014 In: HLA vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4039.	Two novel ABCG2 alleles resulting in a Jr(a-) phenotype. [electronic resource] by Berardi, Philip Cote, Jacqueline Vege, Sunitha Aeschlimann, Judith Cserti-Gazdewich, Christine Westhoff, Connie M Producer: 20180322 In: Transfusion vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4040.	Defining nonsense-mediated mRNA decay intermediates in human cells. [electronic resource] by Kurosaki, Tatsuaki Myers, Jason R Maquat, Lynne E 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)

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