A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diag...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Kohmoto, Tomohiro, Tsuji, Atsumi, Morita, Kei-ichi, Naruto, Takuya, Masuda, Kiyoshi, Kashimada, Kenichi, Enomoto, Keisuke, Morio, Tomohiro, Harada, Hiroyuki, Imoto, Issei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4823386/
https://ncbi.nlm.nih.gov/pubmed/27081569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.3
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