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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
Background: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation. Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12–21), with the majority predicting the generation of a t...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2005
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735964/ https://ncbi.nlm.nih.gov/pubmed/16326827 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033829 |
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