ロード中...

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

BACKGROUND: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems. Many of these mutations are highly recurrent and their associated f...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genet
主要な著者: Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236556/
https://ncbi.nlm.nih.gov/pubmed/25174698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0095-4
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!