Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshal...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Guo, Long, Elcioglu, Nursel H, Wang, Zheng, Demirkol, Yasemin K, Isguven, Pinar, Matsumoto, Naomichi, Nishimura, Gen, Miyake, Noriko, Ikegawa, Shiro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5628180/
https://ncbi.nlm.nih.gov/pubmed/28983407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.40
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