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The use of two different MLPA kits in 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy-number variant disorder, caused by a microdeletion in chromosome band 22q11.2 and occurring with a population prevalence of 1 in 2000. Until today there has been no evidence that the size of the deletion has an influence on...
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| Publicado en: | Eur J Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4820537/ https://ncbi.nlm.nih.gov/pubmed/26921528 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.02.009 |
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