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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Dettagli Bibliografici
Pubblicato in:Hum Genome Var
Autori principali: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Data Report
Accesso online: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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