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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8–100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partia...
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Published in: | Hum Mol Genet |
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Main Authors: | , , , , , , , , , , , , , |
Format: | Artigo |
Language: | Inglês |
Published: |
Oxford University Press
2018
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Subjects: | |
Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886298/ https://ncbi.nlm.nih.gov/pubmed/29281018 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx437 |
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