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Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmi...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3591839/ https://ncbi.nlm.nih.gov/pubmed/23453665 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.01.008 |
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