A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenot...

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書目詳細資料
發表在:Hum Genome Var
Main Authors: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2015
主題:
Data Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785552/
https://ncbi.nlm.nih.gov/pubmed/27081549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.43
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