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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Detalles Bibliográficos
Autores principales: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785552/
https://www.ncbi.nlm.nih.gov/pubmed/27081549
http://dx.doi.org/10.1038/hgv.2015.43

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785552/
https://www.ncbi.nlm.nih.gov/pubmed/27081549
http://dx.doi.org/10.1038/hgv.2015.43

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