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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Data Report
Acesso em linha: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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