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	4641.	The Majority of Genotypes of the Virulence Gene inlA Are Intact among Natural Watershed Isolates of Listeria monocytogenes from the Central California Coast. [electronic resource] by Gorski, Lisa Parker, Craig T Liang, Anita S Walker, Samarpita Romanolo, Kelly F Producer: 20170630 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4642.	Delayed Seroconversion to HTLV-II Is Associated with a Stop-Codon Mutation in the pol Gene. [electronic resource] by Dube, Syamalima Dube, Dipak K Abbott, Lynn Glaser, Jordan Poiesz, Bernard J Producer: 20180205 In: AIDS research and human retroviruses vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4643.	Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Nav1.5 Function of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A. [electronic resource] by Kosmidis, Georgios Veerman, Christiaan C Casini, Simona Verkerk, Arie O van de Pas, Simone Bellin, Milena Wilde, Arthur A M Mummery, Christine L Bezzina, Connie R Producer: 20170619 In: Circulation. Arrhythmia and electrophysiology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4644.	Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience. [electronic resource] by Yildirim, Zuhal K Nexo, Ebba Rupar, Tony Büyükavci, Mustafa Producer: 20170904 In: Journal of pediatric hematology/oncology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4645.	Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. [electronic resource] by Velho, Renata Voltolini Ludwig, Nataniel Floriano Alegra, Taciane Sperb-Ludwig, Fernanda Guarany, Nicole Ruas Matte, Ursula Schwartz, Ida V D Producer: 20170406 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4646.	Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum. [electronic resource] by Demeulenaere, Sofie Beysen, Diane De Veuster, Ilse Reyniers, Edwin Kooy, Frank Meuwissen, Marije Producer: 20191212 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4647.	None [electronic resource] by He, Jing Zhou, Wenjing Shi, Jie Lin, Jiuluan Zhang, Bingqing Sun, Zhaohui Producer: 20200623 In: Genetic testing and molecular biomarkers vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4648.	2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations. [electronic resource] by Trzaska, Carole Amand, Séverine Bailly, Christine Leroy, Catherine Marchand, Virginie Duvernois-Berthet, Evelyne Saliou, Jean-Michel Benhabiles, Hana Werkmeister, Elisabeth Chassat, Thierry Guilbert, Romain Hannebique, David Mouray, Anthony Copin, Marie-Christine Moreau, Pierre-Arthur Adriaenssens, Eric Kulozik, Andreas Westhof, Eric Tulasne, David Motorin, Yuri Rebuffat, Sylvie Lejeune, Fabrice Producer: 20200717 In: Nature communications vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4649.	X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. [electronic resource] by Ressot, C Latour, P Blanquet-Grossard, F Sturtz, F Duthel, S Battin, J Corbillon, E Ollagnon, E Serville, F Vandenberghe, A Dautigny, A Pham-Dinh, D Producer: 19960905 In: Human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4650.	Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. [electronic resource] by Yamada, M Ariga, T Kawamura, N Ohtsu, M Imajoh-Ohmi, S Ohshika, E Tatsuzawa, O Kobayashi, K Sakiyama, Y Producer: 20000602 In: British journal of haematology vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4651.	When the message goes awry: disease-producing mutations that influence mRNA content and performance. [electronic resource] by Mendell, J T Dietz, H C Producer: 20020108 In: Cell vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4652.	Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. [electronic resource] by Karim, Mohammad A Suzuki, Koji Fukai, Kazuyoshi Oh, Jangsuk Nagle, Deborah L Moore, Karen J Barbosa, Ernest Falik-Borenstein, Tzipora Filipovich, Alexandra Ishida, Yasushi Kivrikko, Sirpa Klein, Christoph Kreuz, Friedmar Levin, Alex Miyajima, Hiroaki Regueiro, Jose R Russo, Carolyn Uyama, Eiichiro Vierimaa, Outi Spritz, Richard A Producer: 20020802 In: American journal of medical genetics vol. 108 Availability: No items available. Save to lists Add to cart (remove)
	4653.	mRNAs encoding telomerase components and regulators are controlled by UPF genes in Saccharomyces cerevisiae. [electronic resource] by Dahlseid, Jeffrey N Lew-Smith, Jodi Lelivelt, Michael J Enomoto, Shinichiro Ford, Amanda Desruisseaux, Michelle McClellan, Mark Lue, Neal Culbertson, Michael R Berman, Judith Producer: 20030822 In: Eukaryotic cell vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4654.	Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. [electronic resource] by Hamada, Takahiro Wessagowit, Vesarat South, Andrew P Ashton, Gabrielle H S Chan, Ien Oyama, Noritaka Siriwattana, Apatorn Jewhasuchin, Prachiya Charuwichitratana, Somyot Thappa, Devinder M Jeevankumar, Balasubramanian Lenane, Patsy Krafchik, Bernice Kulthanan, Kanokvalai Shimizu, Hiroshi Kaya, Tamer I Erdal, Mehmet E Paradisi, Mauro Paller, Amy S Seishima, Mariko Hashimoto, Takashi McGrath, John A Producer: 20030512 In: The Journal of investigative dermatology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4655.	Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. [electronic resource] by Nakamura, Makoto Lin, Jian Ueno, Shinji Asaoka, Ryo Hirai, Toshie Hotta, Yoshihiro Miyake, Yozo Terasaki, Hiroko Producer: 20060321 In: Ophthalmology vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4656.	Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. [electronic resource] by Trudeau, M M Dalton, J C Day, J W Ranum, L P W Meisler, M H Producer: 20060630 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4657.	A novel phase-variable autotransporter serine protease, AusI, of Neisseria meningitidis. [electronic resource] by van Ulsen, Peter Adler, Ben Fassler, Peter Gilbert, Maarten van Schilfgaarde, Muriel van der Ley, Peter van Alphen, Loek Tommassen, Jan Producer: 20070116 In: Microbes and infection vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4658.	Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. [electronic resource] by Sanchez, Juan J Monaghan, Gemma Børsting, Claus Norbury, Gail Morling, Niels Gaspar, H Bobby Producer: 20070621 In: Annals of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4659.	A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. [electronic resource] by Foulquier, François Ungar, Daniel Reynders, Ellen Zeevaert, Renate Mills, Philippa García-Silva, Maria Teresa Briones, Paz Winchester, Bryan Morelle, Willy Krieger, Monty Annaert, Willem Matthijs, Gert Producer: 20070828 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4660.	Identification of a zebrafish cone photoreceptor-specific promoter and genetic rescue of achromatopsia in the nof mutant. [electronic resource] by Kennedy, Breandán N Alvarez, Yolanda Brockerhoff, Susan E Stearns, George W Sapetto-Rebow, Beata Taylor, Michael R Hurley, James B Producer: 20070301 In: Investigative ophthalmology & visual science vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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