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Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory
CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. Molecular diagnostic testing for CHD7 mutation has been available in a clinical setting since 2005. We report here the results from the first 642 u...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Mary Ann Liebert, Inc.
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3001831/ https://ncbi.nlm.nih.gov/pubmed/21158681 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2010.0101 |
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