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	5141.	Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. [electronic resource] by Kasatkar, Priyanka Shetty, Shrimati Ghosh, Kanjaksha Producer: 20151221 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5142.	Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in [electronic resource] by Somech, Raz Lev, Atar Lee, Yu Nee Simon, Amos J Barel, Ortal Schiby, Ginette Avivi, Camila Barshack, Iris Rhodes, Michele Yin, Jiejing Wang, Minshi Yang, Yibin Rhodes, Jennifer Marcus, Nufar Garty, Ben-Zion Stein, Jerry Amariglio, Ninette Rechavi, Gideon Wiest, David L Zhang, Yong Producer: 20171229 In: Journal of immunology (Baltimore, Md. : 1950) vol. 199 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5143.	Respiratory syncytial virus A in haematological patients with prolonged shedding: Premature stop codons and deletion of the genotype ON1 72-nucleotide-duplication in the attachment G gene. [electronic resource] by Tabatabai, J Thielen, A Lehners, N Daeumer, M Schnitzler, P Producer: 20190121 In: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5144.	Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. [electronic resource] by Woodley, David T Cogan, Jon Hou, Yingping Lyu, Chao Marinkovich, M Peter Keene, Douglas Chen, Mei Producer: 20171009 In: The Journal of clinical investigation vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5145.	Crx-L253X Mutation Produces Dominant Photoreceptor Defects in TVRM65 Mice. [electronic resource] by Ruzycki, Philip A Linne, Courtney D Hennig, Anne K Chen, Shiming Producer: 20170922 In: Investigative ophthalmology & visual science vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5146.	The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. [electronic resource] by El-Latif, Mahmoud Abd Filon, Dvora Rund, Deborah Oppenheim, Ariella Kanaan, Moien Producer: 20020920 In: Hemoglobin vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5147.	Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. [electronic resource] by Hertz, J M Juncker, I Persson, U Matthijs, G Schmidtke, J Petersen, M B Kjeldsen, M Gregersen, N Producer: 20011204 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5148.	A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations. [electronic resource] by Kahmann, Sabine Herter, Peter Kuhnen, Cornelius Müller, Klaus-Michael Muhr, Gert Martin, Dirk Soddemann, Matthias Müller, Oliver Producer: 20020305 In: Human mutation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5149.	Mutational analysis of the Jagged 1 gene in Alagille syndrome families. [electronic resource] by Yuan, Z R Kohsaka, T Ikegaya, T Suzuki, T Okano, S Abe, J Kobayashi, N Yamada, M Producer: 19981016 In: Human molecular genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5150.	Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. [electronic resource] by Niida, Y Lawrence-Smith, N Banwell, A Hammer, E Lewis, J Beauchamp, R L Sims, K Ramesh, V Ozelius, L Producer: 20000106 In: Human mutation vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5151.	Molecular characterization of the Mycoplasma gallisepticum pvpA gene which encodes a putative variable cytadhesin protein. [electronic resource] by Boguslavsky, S Menaker, D Lysnyansky, I Liu, T Levisohn, S Rosengarten, R García, M Yogev, D Producer: 20000720 In: Infection and immunity vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5152.	Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. [electronic resource] by Ikeda, N Miyoshi, Y Yoneda, K Shiba, E Sekihara, Y Kinoshita, M Noguchi, S Producer: 20010125 In: International journal of cancer vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5153.	Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. [electronic resource] by Teng, Siyong Gao, Lizhi Paajanen, Vesa Pu, Jielin Fan, Zheng Producer: 20090917 In: Cardiovascular research vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5154.	A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. [electronic resource] by Parsam, Vidya Latha Kannabiran, Chitra Honavar, Santosh Vemuganti, Geeta K Ali, Mohammad Javed Producer: 20100504 In: Journal of genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5155.	Ebs1p, a negative regulator of gene expression controlled by the Upf proteins in the yeast Saccharomyces cerevisiae. [electronic resource] by Ford, Amanda S Guan, Qiaoning Neeno-Eckwall, Eric Culbertson, Michael R Producer: 20060508 In: Eukaryotic cell vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5156.	APC gene mutations in Chinese familial adenomatous polyposis patients. [electronic resource] by Sheng, Jian-Qiu Cui, Wei-Jia Fu, Lei Jin, Peng Han, Ying Li, Shu-Jun Fan, Ru-Ying Li, Ai-Qin Zhang, Ming-Zhi Li, Shi-Rong Producer: 20100713 In: World journal of gastroenterology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5157.	Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene. [electronic resource] by De Angelis, M V Di Muzio, A Capasso, M Angiari, C Cavallaro, T Fabrizi, G M Rizzuto, N Uncini, A Producer: 20050804 In: Neurology vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5158.	Clinical variability in Rett syndrome. [electronic resource] by Naidu, SakkuBai Bibat, Genila Kratz, Lisa Kelley, Richard I Pevsner, Jonathan Hoffman, Eric Cuffari, Carmen Rohde, Charles Blue, Mary E Johnston, Michael V Producer: 20040211 In: Journal of child neurology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5159.	Establishment and characterization of a new cell line, FRTK-1, derived from human malignant rhabdoid tumor of the kidney, with overexpression of epidermal growth factor receptor and cyclooxygenase-2. [electronic resource] by Hakozaki, Michiyuki Hojo, Hiroshi Sato, Michiko Kaneko, Yasuhiko Watanabe, Naoki Kikuchi, Shinichi Abe, Masafumi Producer: 20060914 In: Oncology reports vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	5160.	Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. [electronic resource] by Cohen, Jonathan C Boerwinkle, Eric Mosley, Thomas H Hobbs, Helen H Producer: 20060407 In: The New England journal of medicine vol. 354 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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