Full text in PMC (nucleotide) for Gene (Select 304791) - PMC

Select item 52946751.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

John Y.W. Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R. McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C. Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Chien Lin, Masashi Akiyama, Julia Y.Y. Lee, W.H. Irwin McLean, Michael A. Simpson, Maddy Parsons, John A. McGrath

Am J Hum Genet. 2017 Feb 2; 100(2): 364–370. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.014

PMCID:: PMC5294675

Abstract Article PDF–1.2M

Select item 42775472.

Dusty Protein Kinases: Primary Structure, Gene Evolution, Tissue Specific Expression and Unique Features of the Catalytic Domain

Jianbin Peng, Wenji Dong, Ying Chen, Rong Mo, Jan-Fang Cheng, Chi-chung Hui, Narla Mohandas, Cheng-Han Huang

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Dec 26.

Published in final edited form as: Biochim Biophys Acta. 2006 Nov-Dec; 1759(0): 562–572. Published online 2006 Oct 21. doi: 10.1016/j.bbaexp.2006.10.004

PMCID:: PMC4277547

Abstract Article PDF–2.8M

Select item 38463913.

Mutations in DSTYK and Dominant Urinary Tract Malformations

Simone Sanna-Cherchi, Rosemary V. Sampogna, Natalia Papeta, Katelyn E. Burgess, Shannon N. Nees, Brittany J. Perry, Murim Choi, Monica Bodria, Yan Liu, Patricia L. Weng, Vladimir J. Lozanovski, Miguel Verbitsky, Francesca Lugani, Roel Sterken, Neal Paragas, Gianluca Caridi, Alba Carrea, Monica Dagnino, Anna Materna-Kiryluk, Giuseppe Santamaria, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Nilgun Kacak, Beatrice Bianco, Stefania Giberti, Maddalena Gigante, Giorgio Piaggio, Loreto Gesualdo, Durdica Kosuljandic Vukic, Katarina Vukojevic, Mirna Saraga-Babic, Marijan Saraga, Zoran Gucev, Landino Allegri, Anna Latos-Bielenska, Domenica Casu, Matthew State, Francesco Scolari, Roberto Ravazzolo, Krzysztof Kiryluk, Qais Al-Awqati, Vivette D. D'Agati, Iain A. Drummond, Velibor Tasic, Richard P. Lifton, Gian Marco Ghiggeri, Ali G. Gharavi

N Engl J Med. Author manuscript; available in PMC 2014 Feb 15.

Published in final edited form as: N Engl J Med. 2013 Aug 15; 369(7): 10.1056/NEJMoa1214479. Published online 2013 Jul 17. doi: 10.1056/NEJMoa1214479

PMCID:: PMC3846391

Abstract Article PDF–2.4M

Select item 5402774.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

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