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	4341.	Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. [electronic resource] by Ke, Yao-Hua He, Jin-Wei Fu, Wen-Zhen Zhang, Zhen-Lin Producer: 20120508 In: Nephrology (Carlton, Vic.) vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4342.	A novel frameshift mutation Gly239Serfs*8 in the PROC gene results in protein C deficiency in a Korean patient. [electronic resource] by Park, Sang Hyuk Jang, Seongsoo Yang, Hye-Kyung Shim, Hyoeun Park, Chan-Jeoung Chi, Hyun-Sook Oh, Yeon-Mok Producer: 20130109 In: Annals of hematology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4343.	A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes. [electronic resource] by Al-Daghri, Nasser M Clerici, Mario Al-Attas, Omar Forni, Diego Alokail, Majed S Alkharfy, Khalid M Sabico, Shaun Mohammed, Abdul Khader Cagliani, Rachele Sironi, Manuela Producer: 20130521 In: Journal of immunology (Baltimore, Md. : 1950) vol. 190 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4344.	Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4. [electronic resource] by Kimura, Masashi Machida, Junichiro Yamaguchi, Seishi Shibata, Akio Tatematsu, Tadashi Miyachi, Hitoshi Jezewski, Peter A Nakayama, Atsuo Higashi, Yujiro Shimozato, Kazuo Tokita, Yoshihito Producer: 20141203 In: European journal of oral sciences vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4345.	SMG6 cleavage generates metastable decay intermediates from nonsense-containing β-globin mRNA. [electronic resource] by Mascarenhas, Roshan Dougherty, Julie A Schoenberg, Daniel R Producer: 20140807 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4346.	Null Mutations of Group A Streptococcus Orphan Kinase RocA: Selection in Mouse Infection and Comparison with CovS Mutations in Alteration of In Vitro and In Vivo Protease SpeB Expression and Virulence. [electronic resource] by Feng, Wenchao Minor, Dylan Liu, Mengyao Li, Jinquan Ishaq, Suzanne L Yeoman, Carl Lei, Benfang Producer: 20170516 In: Infection and immunity vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4347.	A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. [electronic resource] by Cattaneo, Monica La Sala, Lucia Rondinelli, Maurizio Errichiello, Edoardo Zuffardi, Orsetta Puca, Annibale Alessandro Genovese, Stefano Ceriello, Antonio Producer: 20171219 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4348.	Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. [electronic resource] by Mohd Khalid, Mohd Khairul Nizam Yakob, Yusnita Md Yasin, Rohani Wee Teik, Keng Siew, Ch'ng Gaik Rahmat, Jamalia Ramasamy, Sunder Alagaratnam, Joseph Producer: 20160624 In: Molecular vision vol. 21 Availability: No items available. Save to lists Add to cart (remove)
	4349.	Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. [electronic resource] by Ba-Abbad, Rola Arno, Gavin Carss, Keren Stirrups, Kathleen Penkett, Christopher J Moore, Anthony T Michaelides, Michel Raymond, F Lucy Webster, Andrew R Holder, Graham E Producer: 20160714 In: Ophthalmology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4350.	A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. [electronic resource] by Hebebrand, Moritz Vasileiou, Georgia Krumbiegel, Mandy Kraus, Cornelia Uebe, Steffen Ekici, Arif B Thiel, Christian T Reis, André Popp, Bernt Producer: 20200212 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4351.	Genetic heterogeneity in familial hyperinsulinism. [electronic resource] by Nestorowicz, A Glaser, B Wilson, B A Shyng, S L Nichols, C G Stanley, C A Thornton, P S Permutt, M A Producer: 19990112 In: Human molecular genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4352.	Hereditary spastic paraplegia caused by mutations in the SPG4 gene. [electronic resource] by Bürger, J Fonknechten, N Hoeltzenbein, M Neumann, L Bratanoff, E Hazan, J Reis, A Producer: 20010201 In: European journal of human genetics : EJHG vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4353.	PAX6 mutations reviewed. [electronic resource] by Prosser, J van Heyningen, V Producer: 19980327 In: Human mutation vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4354.	Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. [electronic resource] by Ohnishi, Tetsuo Yamashita, Akio Kashima, Isao Schell, Thomas Anders, Kirk R Grimson, Andrew Hachiya, Takahisa Hentze, Matthias W Anderson, Philip Ohno, Shigeo Producer: 20040105 In: Molecular cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4355.	Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. [electronic resource] by Mancuso, Michelangelo Filosto, Massimiliano Stevens, J Clarke Patterson, Marc Shanske, Sara Krishna, Sindu DiMauro, Salvatore Producer: 20030616 In: Journal of the neurological sciences vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4356.	Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families. [electronic resource] by Irshaid, Nidal M Eicher, Nicole I Hustinx, Hein Poole, Joyce Olsson, Martin L Producer: 20020325 In: British journal of haematology vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4357.	A high-throughput nonisotopic protein truncation test. [electronic resource] by Gite, Sadanand Lim, Mark Carlson, Rick Olejnik, Jerzy Zehnbauer, Barbara Rothschild, Kenneth Producer: 20030916 In: Nature biotechnology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4358.	Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Ahmad, Wasim Wahab, Abdul Haque, Sayedul Azim, Anser C Zaidi, Syed H E Teebi, Ahmad S Ahmad, Mahmud Cohn, Daniel H Siddique, Teepu Tsui, Lap-Chee Producer: 20030108 In: American journal of medical genetics vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4359.	Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families. [electronic resource] by Hadjigeorgiou, Georgios M Sadeh, Menachem Musumeci, Olimpia Dabby, Ron De Girolami, Laura Naini, Ali Papadimitriou, Alexandros Shanske, Sara DiMauro, Salvatore Producer: 20030124 In: Neuromuscular disorders : NMD vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4360.	A novel mechanism for thalassaemia intermedia. [electronic resource] by Badens, C Mattei, M G Imbert, A M Lapouméroulie, C Martini, N Michel, G Lena-Russo, D Producer: 20020214 In: Lancet (London, England) vol. 359 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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