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De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses dif...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Wang, Shuling, Niu, Ziru, Wang, Hui, Ma, Minyue, Zhang, Wei, Wang, Shu Fang, Wang, Jun, Yan, Hong, Liu, Yifan, Duan, Na, Zhang, Xiandong, Yao, Yuanqing
Aineistotyyppi: Online Artikkeli Teksti
Kieli:English
Julkaistu: International Scientific Literature, Inc. 2017
Aiheet:
Linkit:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498129/
https://www.ncbi.nlm.nih.gov/pubmed/28650953
http://dx.doi.org/10.12659/MSM.904546