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Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

✍ Scribed by Ben-Rebeh, Imen; Hertecant, Jozef L.; Al-Jasmi, Fatma A.; Aburawi, Hanan E.; Al-Yahyaee, Said A.; Al-Gazali, Lihadh; Ali, Bassam R.


Book ID
120354230
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
135 KB
Volume
16
Category
Article
ISSN
1945-0265

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We have designed a study aimed at identifying the genetic mutations responsible for cystic fibrosis (CF) in the population of the United Arab Emirates. The prevalence of CF in the UAE is at least 1/15,000 live births and the disease is associated with very severe clinical presentations. We have inv