ロード中...

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-r...

詳細記述

保存先:
書誌詳細
主要な著者: Carvalho, Claudia M. B., Bartnik, Magdalena, Pehlivan, Davut, Fang, Ping, Shen, Joseph, Lupski, James R.
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470482/
https://ncbi.nlm.nih.gov/pubmed/21623770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01716.x
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!