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...

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Библиографические подробности
Опубликовано в: :Int J Clin Exp Med
Главные авторы: Jaradat, Saied A, Abujamous, Lama A, Al-Hawamdeh, Ali A, Alawneh, Khaldoon M, Rawashdeh, Tamara A, Jaradat, Zaher M
Формат: Artigo
Язык:Inglês
Опубликовано: e-Century Publishing Corporation 2015
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Original Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694396/
https://ncbi.nlm.nih.gov/pubmed/26770496
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