Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kim Oakhill"'
Autor:
Arabella V. Poulson, Martin P. Snead, Allan J. Richards, Becky Treacy, Kim Oakhill, Joanne Whittaker, Annie McNinch
Publikováno v:
European Journal of Human Genetics. 20:552-558
UK NHS diagnostic service sequence analysis of genes generally examines and reports on variations within a designated region 5′ and 3′ of each exon, typically 30 bp up and downstream. However, because of the degenerate nature of the splice sites,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f43b3344ddc7634e72eb3eb9d3464e
https://doi.org/10.1038/ejhg.2011.223
https://doi.org/10.1038/ejhg.2011.223
Autor:
Kim Oakhill, Sarah Waller, Annie McNinch, Howard Martin, Sarah P Meredith, Arabella V. Poulson, Allan J. Richards, Harjeet Rai, Becky Treacy, Joanne Whittaker, Martin P. Snead
Publikováno v:
Human mutation. 31(6)
Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147953e3e6430165444ce49cca654229
https://pubmed.ncbi.nlm.nih.gov/20513134
https://pubmed.ncbi.nlm.nih.gov/20513134
Publikováno v:
Molecular Diagnostics ISBN: 9781588293565
Hereditary nonpolyposis colorectal cancer is a tumor predis– position syndrome characterised by a propensity to develop, typically, but by no means exclusively, young‐onset colorectal and other cancers (1). The condition was first described in 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::422967a75c41e708a49c34836470de11
https://doi.org/10.1385/1-59259-928-1:375
https://doi.org/10.1385/1-59259-928-1:375
