Academic literature on the topic 'Polyalanine tract mutations'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Contents
Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Polyalanine tract mutations.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Journal articles on the topic "Polyalanine tract mutations"
Shoubridge, Cheryl, Desiree Cloosterman, Emma Parkinson–Lawerence, Douglas Brooks, and Jozef Gécz. "Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene." Genomics 90, no. 1 (July 2007): 59–71. http://dx.doi.org/10.1016/j.ygeno.2007.03.005.
Full textTakagi, Masaki, Tomohiro Ishii, Chiharu Torii, Kenjiro Kosaki, and Tomonobu Hasegawa. "A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3." Pituitary 17, no. 6 (December 18, 2013): 569–74. http://dx.doi.org/10.1007/s11102-013-0546-5.
Full textShim, Young Sam, Yeun Kyu Jang, Myung Sil Lim, Jung Sup Lee, Rho Hyun Seong, Seung Hwan Hong, and Sang Dai Park. "Rdp1, a Novel Zinc Finger Protein, Regulates the DNA Damage Response of rhp51+ fromSchizosaccharomyces pombe." Molecular and Cellular Biology 20, no. 23 (December 1, 2000): 8958–68. http://dx.doi.org/10.1128/mcb.20.23.8958-8968.2000.
Full textStochmanski, Shawn J., François Blondeau, Martine Girard, Pascale Hince, Daniel Rochefort, Claudia Gaspar, Patrick A. Dion, Peter S. McPherson, and Guy A. Rouleau. "A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases." MNI Open Research 1 (December 5, 2017): 1. http://dx.doi.org/10.12688/mniopenres.12765.1.
Full textUeda, Atsushi, Motoki Osawa, Haruaki Naito, Eriko Ochiai, and Yu Kakimoto. "Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death." PLOS ONE 17, no. 4 (April 29, 2022): e0267751. http://dx.doi.org/10.1371/journal.pone.0267751.
Full textRANKIN, Julia, Andreas WYTTENBACH, and David C. RUBINSZTEIN. "Intracellular green fluorescent protein–polyalanine aggregates are associated with cell death." Biochemical Journal 348, no. 1 (May 9, 2000): 15–19. http://dx.doi.org/10.1042/bj3480015.
Full textShoubridge, Cheryl, Alison Gardner, Charles E. Schwartz, Anna Hackett, Michael Field, and Jozef Gecz. "Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?" European Journal of Human Genetics 20, no. 12 (April 11, 2012): 1311–14. http://dx.doi.org/10.1038/ejhg.2012.61.
Full textYu, H., Y. Hu, A. J. Pask, G. Shaw, and M. B. Renfree. "245. Aristaless-related homeobox gene is involved in early development and spermatogenesis in mammals." Reproduction, Fertility and Development 20, no. 9 (2008): 45. http://dx.doi.org/10.1071/srb08abs245.
Full textDebeer, P. "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13." Journal of Medical Genetics 39, no. 11 (November 1, 2002): 852–56. http://dx.doi.org/10.1136/jmg.39.11.852.
Full textKosaki, Kenjiro, Tsutomu Ogata, Rika Kosaki, Seiji Sato, and Nobutake Matsuo. "A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid." Ophthalmic Genetics 23, no. 1 (January 2002): 43–47. http://dx.doi.org/10.1076/opge.23.1.43.2202.
Full textDissertations / Theses on the topic "Polyalanine tract mutations"
Mattiske, Tessa. "Investigating the Pathogenic Mechanism of Expanded Polyalanine Tract Mutations in the ARX Homeobox Transcription Factor causing Intellectual Disability." Thesis, 2017. http://hdl.handle.net/2440/119241.
Full textThesis (Ph.D.) -- University of Adelaide, Adelaide Medical School, 2017