PMC Links for Nucleotide (Select 237858740) - PMC

Select item 3218451.

Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor.

L Ratner, S F Josephs, R Jarrett, M S Reitz, Jr, F Wong-Staal

Nucleic Acids Res. 1985 Jul 25; 13(14): 5007–5018. doi: 10.1093/nar/13.14.5007

PMCID:: PMC321845

Select item 3071162.

A novel human c-sis mRNA species is transcribed from a promoter in c-sis intron 1 and contains the code for an alternative PDGF B-like protein.

R P Dirks, C Onnekink, H J Jansen, A de Jong, H P Bloemers

Nucleic Acids Res. 1995 Aug 11; 23(15): 2815–2822. doi: 10.1093/nar/23.15.2815

PMCID:: PMC307116

Summary Page Browse PDF–1.9M

Select item 61387553.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, Joana Ferreira, Andrea Legati, Renee Louise Sears, Sandy Chan Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne-Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltete, David Wallon, Thierry Frebourg, Lylyan Pimentel, Daniel H. Geschwind, Olivier Vanakker, Douglas Galasko, Brent L. Fogel, A Micheil Innes, Alison Ross, William B. Dobyns, Diana Alcantara, Mark O’Driscoll, Didier Hannequin, Dominique Campion, The French PFBC study group, João R. Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas

Eur J Hum Genet. 2018 Oct; 26(10): 1462–1477. Published online 2018 Jun 28. doi: 10.1038/s41431-018-0185-4

PMCID:: PMC6138755

Abstract Article PDF–889K

Select item 41695464.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Gaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, Anne Rovelet-Lecrux, Olivier Rouaud, Cyril Pottier, Marie-Hélène Aubriot-Lorton, Stéphane Rousseau, David Wallon, Christian Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin

Eur J Hum Genet. 2014 Oct; 22(10): 1236–1238. Published online 2014 Feb 12. doi: 10.1038/ejhg.2014.9

PMCID:: PMC4169546

Abstract Article PDF–513K

Select item 41070185.

Genetic screening and functional characterization of PDGFRB mutations associated with Basal Ganglia Calcification of Unknown Etiology

Monica Sanchez-Contreras, Matthew C. Baker, NiCole A. Finch, Alexandra Nicholson, Aleksandra Wojtas, Zbigniew K. Wszolek, Owen A. Ross, Dennis W. Dickson, Rosa Rademakers

Hum Mutat. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Hum Mutat. 2014 Aug; 35(8): 964–971. Published online 2014 Jun 3. doi: 10.1002/humu.22582

PMCID:: PMC4107018

Abstract Article PDF–968K

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