Zobrazeno 1 - 5
of 5
pro vyhledávání: '"N H Robertson"'
Publikováno v:
Diagnostic Molecular Pathology. 8:205-210
The mother and second child from a family, already with one PI ZZ child, were typed PI MZ by isoelectric focusing and unexpectedly as PI ZZ using a commercial alpha-1-antitrypsin genotyping kit. Both methods typed the father and first child as PI MZ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27faaa7e4d95cdb66eb916c1b8c7d4fb
https://doi.org/10.1097/00019606-199912000-00006
https://doi.org/10.1097/00019606-199912000-00006
Autor:
C. R. Newton, S. L. Weston, S. J. Kelly, N. H. Robertson, P. Elsmore, S. R. Pearce, N. J. Duxbury, M. B. T. Webb, S. Little
Publikováno v:
European Respiratory Journal. 12:477-482
The results obtained using deoxyribonucleic acid (DNA) amplification-based tests must be accurate and reproducible. One such test that simultaneously detects any of 12 of the most common mutations of the cystic fibrosis transmembrane conductance regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7476b64b6433de51af80bfb968920b02
https://doi.org/10.1183/09031936.98.12020477
https://doi.org/10.1183/09031936.98.12020477
Autor:
D D Johnson, Richard M. Ferrie, N H Robertson, James E. Haddow, Glenn E. Palomaki, Linda A Bradley
Publikováno v:
Journal of Medical Screening. 5:34-36
Objectives This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine whether the testing can be performed using rou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca986426bd2105c151a85060bee3c74
https://doi.org/10.1136/jms.5.1.34
https://doi.org/10.1136/jms.5.1.34
Publikováno v:
American journal of human genetics. 51(2)
The amplification refractory mutation system (ARMS) is a simple, rapid and reliable method for the detection of any mutation involving single base changes or small deletions. We have applied ARMS methodology to the detection of mutations in the cysti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::02d37573863c9482d0789314f3532b56
https://pubmed.ncbi.nlm.nih.gov/1379414
https://pubmed.ncbi.nlm.nih.gov/1379414
Autor:
T. Brokenshire, N. H. Robertson
Publikováno v:
Annals of Applied Biology. 108:52-53
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3339975e2fa26e5b712f9630a51b0e4c
https://doi.org/10.1111/aab.1986.108.s1.52
https://doi.org/10.1111/aab.1986.108.s1.52