Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene are not well-characterized. In this study, we applied next-generation sequencing-based copy number variation profili...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Ge, Lin, Liu, Aijie, Gao, Kai, Du, Renqian, Ding, Juan, Mao, Bing, Hua, Ying, Zhang, Xiaoli, Tan, Dandan, Yang, Haipo, Fu, Xiaona, Fan, Yanbin, Zhang, Ling, Song, Shujuan, Wu, Jian, Zhang, Feng, Jiang, Yuwu, Wu, Xiru, Xiong, Hui
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6177444/
https://ncbi.nlm.nih.gov/pubmed/30301903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33098-3
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia