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	3881.	Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. [electronic resource] by Hinek, A Zhang, S Smith, A C Callahan, J W Producer: 20000807 In: American journal of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3882.	Detection of PTEN nonsense mutation and psiPTEN expression in central nervous system high-grade astrocytic tumors by a yeast-based stop codon assay. [electronic resource] by Zhang, C L Tada, M Kobayashi, H Nozaki, M Moriuchi, T Abe, H Producer: 20001019 In: Oncogene vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3883.	A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population. [electronic resource] by Marti, A Corbalán, M S Forga, L Martinez, J A Hinney, A Hebebrand, J Producer: 20030417 In: International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3884.	An animal model for Charcot-Marie-Tooth disease type 4B1. [electronic resource] by Bonneick, Sonja Boentert, Matthias Berger, Philipp Atanasoski, Suzana Mantei, Ned Wessig, Carsten Toyka, Klaus V Young, Peter Suter, Ueli Producer: 20060307 In: Human molecular genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3885.	Compensated deleterious mutations in insect genomes. [electronic resource] by Kulathinal, Rob J Bettencourt, Brian R Hartl, Daniel L Producer: 20041221 In: Science (New York, N.Y.) vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3886.	Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system. [electronic resource] by Real, Sebastián M Marzese, Diego M Gomez, Laura C Mayorga, Luis S Roqué, María Producer: 20061012 In: BMC biotechnology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3887.	A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats. [electronic resource] by Strassel, C Alessi, M-C Juhan-Vague, I Cazenave, J-P Lanza, F Producer: 20050214 In: Journal of thrombosis and haemostasis : JTH vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3888.	Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. [electronic resource] by Salameh, W Choucair, M Guo, T B Zahed, L Wu, S-M Leung, M Y-K Rennert, O M Chan, W-Y Producer: 20050524 In: Molecular and cellular endocrinology vol. 229 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3889.	A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. [electronic resource] by Schwarzer, Wibke Witte, Florian Rajab, Anna Mundlos, Stefan Stricker, Sigmar Producer: 20100222 In: Human molecular genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3890.	Unexpected paracrine action of prostate cancer cells harboring a new class of androgen receptor mutation--a new paradigm for cooperation among prostate tumor cells. [electronic resource] by Lapouge, Gaëlle Erdmann, Eva Marcias, Gemma Jagla, Monika Monge, Audrey Kessler, Pascal Serra, Sebastian Lang, Hervé Jacqmin, Didier Bergerat, Jean-Pierre Céraline, Jocelyn Producer: 20071108 In: International journal of cancer vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3891.	A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. [electronic resource] by Shintani, M Yagi, H Nakayama, T Saji, T Matsuoka, R Producer: 20090925 In: Journal of medical genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3892.	Independent inactivation of arginine decarboxylase genes by nonsense and missense mutations led to pseudogene formation in Chlamydia trachomatis serovar L2 and D strains. [electronic resource] by Giles, Teresa N Fisher, Derek J Graham, David E Producer: 20090814 In: BMC evolutionary biology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3893.	A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand. [electronic resource] by Luangwedchakarn, Voravich Jirapongsaranuruk, Orathai NiemeLa, Julie E Thepthai, Charin Chokephaibulkit, Kulkanya Sukpanichnant, Sanya Pacharn, Punchama Visitsunthorn, Nualanong Vichyanond, Pakit Piboonpocanun, Surapon Fleisher, Thomas A Producer: 20091117 In: Asian Pacific journal of allergy and immunology vol. 27 Availability: No items available. Save to lists Add to cart (remove)
	3894.	MLH1 Differential allelic expression in mutation carriers and controls. [electronic resource] by Santibanez Koref, Mauro Wilson, Valerie Cartwright, Nicola Cunnington, Michael S Mathers, John C Bishop, D Timothy Curtis, Ann Dunlop, Malcolm G Burn, John Producer: 20101207 In: Annals of human genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3895.	Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). [electronic resource] by Pink, Andrew E Simpson, Michael A Desai, Nemesha Dafou, Dimitra Hills, Alison Mortimer, Peter Smith, Catherine H Trembath, Richard C Barker, Jonathan N W Producer: 20130123 In: The Journal of investigative dermatology vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3896.	Post-transcriptionally regulated expression system in human xenogeneic transplantation models. [electronic resource] by Lee, Hui-Ling Rose Chen, Chiann-Chyi Baasov, Timor Ron, Yacov Dougherty, Joseph P Producer: 20120109 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3897.	Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. [electronic resource] by Hellebrand, Heide Sutter, Christian Honisch, Ellen Gross, Eva Wappenschmidt, Barbara Schem, Christian Deissler, Helmut Ditsch, Nina Gress, Verena Kiechle, Marion Bartram, Claus R Schmutzler, Rita K Niederacher, Dieter Arnold, Norbert Meindl, Alfons Producer: 20110919 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3898.	A nonsense mutation in a putative sulphate transporter gene results in low phytic acid in barley. [electronic resource] by Ye, Hongxia Zhang, Xiao-Qi Broughton, Sue Westcott, Sharon Wu, Dianxing Lance, Reg Li, Chengdao Producer: 20110707 In: Functional & integrative genomics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3899.	Precise and efficient genome editing in zebrafish using the CRISPR/Cas9 system. [electronic resource] by Irion, Uwe Krauss, Jana Nüsslein-Volhard, Christiane Producer: 20150204 In: Development (Cambridge, England) vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3900.	Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. [electronic resource] by Cao, Li Liu, Fei Kong, Mingxiang Fang, Yong Gu, Haifeng Chen, Yu Zhao, Chen Zhang, Shuijun Bi, Qing Producer: 20140903 In: Oncology reports vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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