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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Bibliografiset tiedot
Julkaisussa:Hum Genome Var
Päätekijät: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2015
Aiheet:
Data Report
Linkit: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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