Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Matthew S. Comeaux"'
Autor:
Melanie A. Jones, Kirsten M. Timms, Shanell Hatcher, Elizabeth S. Cogan, Matthew S. Comeaux, Michael Perry, Brian Morris, Brad Swedlund, Cathy E. Elks, Pierre Lao‐Sirieix, Simon Dearden, Coumaran Egile, Jessica S. Brown, Elizabeth A. Harrington, Darren Hodgson, Matt Stern, Thomas P. Slavin, Debora Mancini‐DiNardo
Publikováno v:
Genes, Chromosomes and Cancer.
Autor:
Lee-Jun C. Wong, Victor Wei Zhang, Matthew S. Comeaux, Soledad Kleppe, Deborah L. Renaud, William J. Craigen, Eric S. Schmitt, Guoli Wang, Jing Wang, Qin Sun
Publikováno v:
Molecular Genetics and Metabolism. 109:260-268
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes c
Publikováno v:
Genome Research. 19:545-555
The human genome contains nearly 1.1 million Alu elements comprising roughly 11% of its total DNA content. Alu elements use a copy and paste retrotransposition mechanism that can result in de novo disease insertion alleles. There are nearly 900,000 o
Autor:
Fernando Scaglia, Sarah H. Elsea, Christian P. Schaaf, Qin Sun, Mark N. Ziats, Matthew S. Comeaux, Arthur L. Beaudet, Yaping Yang
Publikováno v:
American Journal of Medical Genetics Part A. 167:2496-2496