Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alex V. Nesta"'
Autor:
Jason J. Bisaillon, Legairre A. Radden II, Eric T. Szabo, Samantha R. Hughes, Aaron M. Feliciano, Alex V. Nesta, Belinda Petrovic, Kenneth M. Palanza, Dainius Lancinskas, Theodore A. Szmurlo, David C. Artus, Martin A. Kapper, James P. Mulrooney, Thomas R. King
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 378-390 (2014)
Because of the similar phenotypes they generate and their proximate reported locations on Chromosome 7, we tested the recessive retarded hair growth (rhg) and frizzy (fr) mouse mutations for allelism, but found instead that these defects complement.
Externí odkaz:
https://doaj.org/article/9efcf5e7a54343e2a3afd8cd858106f1
Autor:
Kenneth M. Palanza BSc, Alex V. Nesta BSc, Renukanandan Tumu, Cherie M. Walton MSc, Michael A. Davis PhD, Thomas R. King PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene ( Oat ). The high levels of circulating ornithine that lead to
Externí odkaz:
https://doaj.org/article/46413e5539b7433cb603aa9d44d7a727
Publikováno v:
Trends in genetics : TIG
Mutation of the human genome results in three classes of genomic variation: single nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some mutations occur during normal processes, such as meiotic recombination or
Autor:
Belinda Petrovic, David C. Artus, Dainius Lancinskas, Samantha R. Hughes, Legairre A. Radden, Eric T. Szabo, Martin A. Kapper, Jason J. Bisaillon, James P. Mulrooney, Aaron M Feliciano, Alex V. Nesta, Kenneth M. Palanza, Theodore A. Szmurlo, Thomas R. King
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 378-390 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 378-390 (2014)
Because of the similar phenotypes they generate and their proximate reported locations on Chromosome 7, we tested the recessive retarded hair growth (rhg) and frizzy (fr) mouse mutations for allelism, but found instead that these defects complement.
Autor:
Renukanandan Tumu, Alex V. Nesta, Kenneth M. Palanza, Michael Davis, Cherie M. Walton, Thomas R. King
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160015, Published: 30 MAY 2019
Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160015, Published: 30 MAY 2019
Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene (Oat). The high levels of circulating ornithine that lead to op