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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...
Päätekijät: | , , , , , , , , , , , |
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Aineistotyyppi: | Online Artikkeli Teksti |
Kieli: | English |
Julkaistu: |
International Scientific Literature, Inc.
2017
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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 |