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	1241.	A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population. [electronic resource] by Fang, Chen Huang, Jian Huang, Yun Chen, Linqi Chen, Xiuli Hu, Ji Producer: 20160324 In: Diabetes research and clinical practice vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1242.	Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. [electronic resource] by Jeon, In Kyung Kim, Song-Ee Kim, Soo-Chan Producer: 20150515 In: The Journal of dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1243.	Chanarin Dorfman syndrome: a case report with novel nonsense mutation. [electronic resource] by Gupta, Neerja Gothwal, Sunil Satpathy, Amit Kumar Missaglia, S Tavian, D Das, Prasenjit Timila, Dipsal Kabra, Madhulika Producer: 20160318 In: Gene vol. 575 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1244.	The Drosophila prage Gene, Required for Maternal Transcript Destabilization in Embryos, Encodes a Predicted RNA Exonuclease. [electronic resource] by Cui, Jun Lai, Yun Wei Sartain, Caroline V Zuckerman, Rebecca M Wolfner, Mariana F Producer: 20171116 In: G3 (Bethesda, Md.) vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1245.	The rules and impact of nonsense-mediated mRNA decay in human cancers. [electronic resource] by Lindeboom, Rik G H Supek, Fran Lehner, Ben Producer: 20170623 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1246.	Hematopoietic stem cell transplantation corrects WIP deficiency. [electronic resource] by Al-Mousa, Hamoud Hawwari, Abbas Al-Ghonaium, Abdulaziz Al-Saud, Bandar Al-Dhekri, Hasan Al-Muhsen, Saleh Elshorbagi, Sahar Dasouki, Majed El-Baik, Lina Alseraihy, Amal Ayas, Mouhab Arnaout, Rand Producer: 20181211 In: The Journal of allergy and clinical immunology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1247.	Truncating mutations of [electronic resource] by Solowska, Joanna M Rao, Anand N Baas, Peter W Producer: 20171116 In: Molecular biology of the cell vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1248.	Bovine leukemia virus G4 enhances virus production. [electronic resource] by Murakami, Hironobu Asano, Shotaro Uchiyama, Jumpei Sato, Reiichiro Sakaguchi, Masahiro Tsukamoto, Kenji Producer: 20180412 In: Virus research vol. 238 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1249.	Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. [electronic resource] by Takeda, Ryojun Takagi, Masaki Shinohara, Hiroyuki Futagawa, Hiroshi Narumi, Satoshi Hasegawa, Tomonobu Nishimura, Gen Yoshihashi, Hiroshi Producer: 20180326 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1250.	Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy. [electronic resource] by Liu, Zhigang Zhang, Yuan Zhu, Min Zhang, Bin Producer: 20200804 In: Haematologica vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1251.	Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. [electronic resource] by Chen, Wei-Wei Yang, Qi Li, Xiao-Yao Shi, Xiao-Lei Pu, Na Lu, Guo-Tao Tong, Zhi-Hui Chen, Jian-Min Li, Wei-Qin Producer: 20190708 In: Lipids in health and disease vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1252.	A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report. [electronic resource] by Li, Jia-Qi Xie, Xin-Bao Feng, Jia-Yan Chen, Lian Abuduxikuer, Kuerbanjiang Lu, Yi Li, Yu-Chuan Wang, Jian-She Producer: 20181002 In: BMC gastroenterology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1253.	Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. [electronic resource] by Leon, Eyby Diaz, Jullianne Castilla-Vallmanya, Laura Grinberg, Daniel Balcells, Susanna Urreizti, Roser Producer: 20201228 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1254.	Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. [electronic resource] by Onoufriadis, Alexandros Ahmed, Noha Bessar, Hagar Guy, Alyson Liu, Lu Marantzidis, Alexandros Kesidou, Evangelia Papanikolaou, Maria Simpson, Michael A Mellerio, Jemima E Lee, John Y W McGrath, John A Producer: 20210106 In: The Journal of investigative dermatology vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1255.	Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein. [electronic resource] by Rughani, Ankur Zhang, Dongsheng Vairamani, Kanimozhi Dauber, Andrew Hwa, Vivian Krishnan, Sowmya Producer: 20210818 In: Clinical endocrinology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1256.	A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts. [electronic resource] by Kemppainen, R Palatsi, R Kallioinen, M Oikarinen, A Producer: 19970121 In: The Journal of investigative dermatology vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1257.	Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. [electronic resource] by Christie, P T Curley, A Nesbit, M A Chapman, C Genet, S Harper, P S Keeling, S L Wilkie, A O Winter, R M Thakker, R V Producer: 20010802 In: The Journal of clinical endocrinology and metabolism vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1258.	Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity. [electronic resource] by Chávez, B Vilchis, F Zenteno, J C Larrea, F Kofman-Alfaro, S Producer: 20010524 In: Clinical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1259.	Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease. [electronic resource] by Yang, C-C Lai, L-W Whitehair, O Hwu, W-L Chiang, S-C Lien, Y-H H Producer: 20031112 In: Clinical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1260.	Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. [electronic resource] by Upadhyaya, Meena Majounie, Elisa Thompson, Peter Han, Song Consoli, Claudia Krawczak, Michael Cordeiro, Isobel Cooper, David N Producer: 20030226 In: Human genetics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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