A novel mutation in K6b in pachyonychia congenita type 2.
作者： Vishakha M. Sharma , Sarah L. Stein
关键词: Novel mutation 、 Genetics 、 Medicine 、 Pachyonychia congenita
摘要:
core.ac.uk
jidonline.org
nature.com参考文章(12)
Covello, Smith, Sillevis Smitt, Paller, Munro, Jonkman, Uitto, H.I.Mclean, Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology. ,vol. 139, pp. 475- 480 ,(1998) , 10.1046/J.1365-2133.1998.02413.X
Alfred S. Lewin, Peter M. Glazer, Leonard M. Milstone, Gene Therapy for Autosomal Dominant Disorders of Keratin Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 47- 61 ,(2005) , 10.1111/J.1087-0024.2005.10207.X
Sancy A. Leachman, Roger L. Kaspar, Philip Fleckman, Scott R. Florell, Frances J.D. Smith, W.H. Irwin McLean, Declan P. Lunny, Leonard M. Milstone, Maurice A.M. van Steensel, Colin S. Munro, Edel A. O'Toole, Julide T. Celebi, Aleksej Kansky, EBirgitte Lane, Clinical and Pathological Features of Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 3- 17 ,(2005) , 10.1111/J.1087-0024.2005.10202.X
Leonard M. Milstone, Philip Fleckman, Sancy A. Leachman, Irene M. Leigh, Amy S. Paller, Maurice A.M. van Steensel, Carl Swartling, Treatment of Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 18- 20 ,(2005) , 10.1111/J.1087-0024.2005.10203.X
Takaki Hashiguchi, Shinichi Yotsumoto, Hidehiko Shimada, Kenjiro Terasaki, Tamotsu Kanzaki, Mitsuru Setoyama, Keiko Kobayashi, Takeyori Saheki, A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. Journal of Investigative Dermatology. ,vol. 118, pp. 545- 547 ,(2002) , 10.1046/J.0022-202X.2001.01701.X
W. H. Irwin McLean, Frances J.D. Smith, Andrew J. Cassidy, Insights into Genotype–Phenotype Correlation in Pachyonychia Congenita from the Human Intermediate Filament Mutation Database Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 31- 36 ,(2005) , 10.1111/J.1087-0024.2005.10205.X
Robyn P Hickerson, Frances JD Smith, WH Irwin Mclean, Markus Landthaler, Rudolf E Leube, Roger L Kaspar, None, SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. Annals of the New York Academy of Sciences. ,vol. 1082, pp. 56- 61 ,(2006) , 10.1196/ANNALS.1348.059
Roger L. Kaspar, Challenges in Developing Therapies for Rare Diseases Including Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 62- 66 ,(2005) , 10.1111/J.1087-0024.2005.10208.X
C.S. Munro, Pachyonychia congenita: mutations and clinical presentations. British Journal of Dermatology. ,vol. 144, pp. 929- 930 ,(2001) , 10.1046/J.1365-2133.2001.04216.X
Frances J.D. Smith, Haihui Liao, Andrew J. Cassidy, Arlene Stewart, Kevin J. Hamill, Pamela Wood, Iris Joval, Maurice A.M. van Steensel, Erik Björck, Faith Callif-Daley, Gerald Pals, Paul Collins, Sancy A. Leachman, Colin S. Munro, W. H. Irwin McLean, The Genetic Basis of Pachyonychia Congenita Journal of Investigative Dermatology Symposium Proceedings. ,vol. 10, pp. 21- 30 ,(2005) , 10.1111/J.1087-0024.2005.10204.X