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	141.	Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. [electronic resource] by Riveiro-Alvarez, R Trujillo, M J Cantalapiedra, D Vallespin, E Villaverde, C Valverde, D Ayuso, C Producer: 20070309 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	142.	Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. [electronic resource] by Barber, Alison G Wajid, Muhammad Columbo, Morgana Lubetkin, Jillian Christiano, Angela M Producer: 20070418 In: Journal of dermatological science vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	Refinement of lentiviral vector for improved RNA processing and reduced rates of self inactivation repair. [electronic resource] by Koldej, Rachel M Anson, Donald S Producer: 20091113 In: BMC biotechnology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. [electronic resource] by Coutinho, M F Lacerda, L Prata, M J Ribeiro, H Lopes, L Ferreira, C Alves, S Producer: 20081111 In: Clinical genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	Intron-centric estimation of alternative splicing from RNA-seq data. [electronic resource] by Pervouchine, Dmitri D Knowles, David G Guigó, Roderic Producer: 20130805 In: Bioinformatics (Oxford, England) vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	146.	TassDB2 - A comprehensive database of subtle alternative splicing events. [electronic resource] by Sinha, Rileen Lenser, Thorsten Jahn, Niels Gausmann, Ulrike Friedel, Swetlana Szafranski, Karol Huse, Klaus Rosenstiel, Philip Hampe, Jochen Schuster, Stefan Hiller, Michael Backofen, Rolf Platzer, Matthias Producer: 20101027 In: BMC bioinformatics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	147.	Identification and genomic characterization of a novel rat bocavirus from brown rats in China. [electronic resource] by Lau, Susanna K P Yeung, Hazel C Li, Kenneth S M Lam, Carol S F Cai, Jian-Piao Yuen, Ming-Chi Wang, Ming Zheng, Bo-Jian Woo, Patrick C Y Yuen, Kwok-Yung Producer: 20171002 In: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	HLA-DRB401:14 is a null allele, and renamed HLA-DRB401:14N. [electronic resource] by Fuerst, Daniel Tsamadou, Chrysanthi Gowdavally, Sowmya Schrezenmeier, Hubert Mytilineos, Joannis Producer: 20210621 In: HLA vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	The U1 spliceosomal RNA is recurrently mutated in multiple cancers. [electronic resource] by Shuai, Shimin Suzuki, Hiromichi Diaz-Navarro, Ander Nadeu, Ferran Kumar, Sachin A Gutierrez-Fernandez, Ana Delgado, Julio Pinyol, Magda López-Otín, Carlos Puente, Xose S Taylor, Michael D Campo, Elías Stein, Lincoln D Producer: 20200327 In: Nature vol. 574 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. [electronic resource] by Pohlenz, Joachim Dumitrescu, Alexandra Aumann, Ulrich Koch, Gerhard Melchior, Ralph Prawitt, Dirk Refetoff, Samuel Producer: 20020207 In: The Journal of clinical endocrinology and metabolism vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition. [electronic resource] by Yu, Yang Maroney, Patricia A Denker, John A Zhang, Xiang H-F Dybkov, Olexandr Lührmann, Reinhard Jankowsky, Eckhard Chasin, Lawrence A Nilsen, Timothy W Producer: 20090112 In: Cell vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. [electronic resource] by Ohno, K Engel, Andrew G Producer: 20051011 In: Human genetics vol. 117 Availability: No items available. Save to lists Add to cart (remove)
	153.	Principles of 3' splice site selection and alternative splicing for an unusual group II intron from Bacillus anthracis. [electronic resource] by Robart, Aaron R Montgomery, Nancy Kristine Smith, Kimothy L Zimmerly, Steven Producer: 20040521 In: RNA (New York, N.Y.) vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	154.	Regulation of alternative splicing by reversible protein phosphorylation. [electronic resource] by Stamm, Stefan Producer: 20080214 In: The Journal of biological chemistry vol. 283 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis. [electronic resource] by Wang, Yun-Ying Wen, Cheng-Quan Wei, Zhen Jin, Xin Producer: 20111220 In: Journal of pediatric hematology/oncology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. [electronic resource] by Refke, M Pasternack, S M Fiebig, B Wenzel, S Ishorst, N Ludwig, M Nöthen, M M Seyger, M M Hamel, B C Betz, R C Producer: 20120201 In: The British journal of dermatology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [electronic resource] by Ansseau, Eugénie Domire, Jacqueline S Wallace, Lindsay M Eidahl, Jocelyn O Guckes, Susan M Giesige, Carlee R Pyne, Nettie K Belayew, Alexandra Harper, Scott Q Producer: 20160202 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. [electronic resource] by Wimmer, Katharina Mühlbauer, Manfred Eckart, Markus Callens, Tom Rehder, Helga Birkner, Thomas Leroy, Jules G Fonatsch, Christa Messiaen, Ludwine Producer: 20021210 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. [electronic resource] by Tate, Genshu Suzuki, Takao Kishimoto, Koji Mitsuya, Toshiyuki Producer: 20040603 In: Journal of human genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	Evaluation of in silico splice tools for decision-making in molecular diagnosis. [electronic resource] by Houdayer, Claude Dehainault, Catherine Mattler, Christophe Michaux, Dorothée Caux-Moncoutier, Virginie Pagès-Berhouet, Sabine d'Enghien, Catherine Dubois Laugé, Anthony Castera, Laurent Gauthier-Villars, Marion Stoppa-Lyonnet, Dominique Producer: 20080828 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 3387 results.