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Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
Marfan syndrome is an autosomal dominant inheritance disorder with a 1/5000-live-birth prevalence. More than 3000 mutations have been characterized thus far in the FBN1 gene. The goal of this study is to facilitate Marfan syndrome diagnosis in Jordanian patients using a molecular genetic testing. Al...
Gardado en:
| Publicado en: | Int J Clin Exp Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
e-Century Publishing Corporation
2015
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4694396/ https://ncbi.nlm.nih.gov/pubmed/26770496 |
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