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	3841.	Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. [electronic resource] by Igarashi, Takashi Inatomi, Jun Sekine, Takashi Seki, George Shimadzu, Mitsunobu Tozawa, Fumiko Takeshima, Yasuhiro Takumi, Toru Takahashi, Toshikazu Yoshikawa, Norishige Nakamura, Hajime Endou, Hitoshi Producer: 20010719 In: Journal of the American Society of Nephrology : JASN vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3842.	Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. [electronic resource] by Miyamoto, T Kanazawa, N Kato, S Kawakami, M Inoue, Y Kuhara, T Inoue, T Takeshita, K Tsujino, S Producer: 20010913 In: Journal of human genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3843.	[Neurotrypsin mutations and mental retardation]. [electronic resource] by Molinari, Florence Rio, Marlène Munnich, Arnold Colleaux, Laurence Producer: 20030904 In: Medecine sciences : M/S vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3844.	[Pre-mRNA splicing: a source of a diversified gene expression network]. [electronic resource] by Mayeda, Akila Suzuki, Hitoshi Producer: 20030618 In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	3845.	Molecular and biochemical analysis of Saccharomyces cerevisiae cox1 mutants. [electronic resource] by Lemaire, C Robineau, S Netter, P Producer: 19981104 In: Current genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3846.	Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. [electronic resource] by Bond, C Si, X Crisp, M Wong, P Paulson, G W Boesel, C P Dlouhy, S R Hodes, M E Producer: 19971114 In: American journal of medical genetics vol. 71 Availability: No items available. Save to lists Add to cart (remove)
	3847.	Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany. [electronic resource] by Kiechle, M Gross, E Schwarz-Boeger, U Pfisterer, J Jonat, W Gerber, W D Albacht, B Fischer, B Schlegelberger, B Arnold, N Producer: 20010111 In: Human mutation vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3848.	Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. [electronic resource] by Iolascon, Achille Russo, Roberta Esposito, Maria Rosaria Asci, Roberta Piscopo, Carmelo Perrotta, Silverio Fénéant-Thibault, Madeleine Garçon, Loïc Delaunay, Jean Producer: 20111005 In: Haematologica vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3849.	Identification of an essential Francisella tularensis subsp. tularensis virulence factor. [electronic resource] by Qin, Aiping Scott, David W Thompson, Jennifer A Mann, Barbara J Producer: 20090123 In: Infection and immunity vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3850.	Reawakening retrocyclins: ancestral human defensins active against HIV-1. [electronic resource] by Venkataraman, Nitya Cole, Amy L Ruchala, Piotr Waring, Alan J Lehrer, Robert I Stuchlik, Olga Pohl, Jan Cole, Alexander M Producer: 20090630 In: PLoS biology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3851.	[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen]. [electronic resource] by Fang, Yi Wang, Hong-Li Wang, Xue-Feng Fu, Qi-Hua Wang, Wen-Bin Xie, Shuang Zhou, Rong-Fu Dai, Jing Wang, Zhen-Yi Producer: 20080902 In: Zhongguo shi yan xue ye xue za zhi vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	3852.	Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. [electronic resource] by Aldred, Michael J Talacko, Anna A Savarirayan, Ravi Murdolo, Vince Mills, Alan E Radden, Bryan G Alimov, Andrei Villablanca, Andrea Larsson, Catharina Producer: 20060314 In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3853.	Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. [electronic resource] by Graham, Randall B Nolasco, Melissa Peterlin, Borut Garcia, Christine Kim Producer: 20050901 In: American journal of respiratory and critical care medicine vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3854.	Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. [electronic resource] by Waanders, Esmé te Morsche, René H M de Man, Rob A Jansen, Jan B M J Drenth, Joost P H Producer: 20061016 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3855.	Emergence and takeover of precore-stop mutant prior to exacerbation of e antigen-negative chronic hepatitis B after withdrawal of lamivudine therapy. [electronic resource] by Yeh, Chau-Ting Lin, Wei-Pin Hsu, Chao-Wei Chang, Ming-Ling Lin, Shi-Ming Sheen, I-Shyan Producer: 20060811 In: Journal of medical virology vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3856.	Cyclooxygenase COX-2a, a novel COX-2 mRNA variant, in platelets from patients after coronary artery bypass grafting. [electronic resource] by Censarek, Petra Freidel, Kerstin Udelhoven, Michael Ku, Sun-Jung Hohlfeld, Thomas Meyer-Kirchrath, Jutta Schrör, Karsten Weber, Artur-Aron Producer: 20050524 In: Thrombosis and haemostasis vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3857.	Cancer chemoprevention of intestinal polyposis in ApcMin/+ mice by sulforaphane, a natural product derived from cruciferous vegetable. [electronic resource] by Hu, Rong Khor, Tin Oo Shen, Guoxiang Jeong, Woo-Sik Hebbar, Vidya Chen, Chi Xu, Changjiang Reddy, Bandaru Chada, Kiran Kong, Ah-Ng Tony Producer: 20061113 In: Carcinogenesis vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3858.	The Drosophila heterogeneous nuclear ribonucleoprotein M protein, HRP59, regulates alternative splicing and controls the production of its own mRNA. [electronic resource] by Hase, Manuela E Yalamanchili, Prakash Visa, Neus Producer: 20070206 In: The Journal of biological chemistry vol. 281 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3859.	Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. [electronic resource] by Goldberg, Y P MacFarlane, J MacDonald, M L Thompson, J Dube, M-P Mattice, M Fraser, R Young, C Hossain, S Pape, T Payne, B Radomski, C Donaldson, G Ives, E Cox, J Younghusband, H B Green, R Duff, A Boltshauser, E Grinspan, G A Dimon, J H Sibley, B G Andria, G Toscano, E Kerdraon, J Bowsher, D Pimstone, S N Samuels, M E Sherrington, R Hayden, M R Producer: 20070621 In: Clinical genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3860.	COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. [electronic resource] by Ho, Matthew S P Tsang, Kwok Yeung Lo, Rebecca L K Susic, Miki Mäkitie, Outi Chan, Tori W Y Ng, Vivian C W Sillence, David O Boot-Handford, Raymond P Gibson, Gary Cheung, Kenneth M C Cole, William G Cheah, Kathryn S E Chan, Danny Producer: 20070806 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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