Article
Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit - 1 Nov 2001
Dawson K P, Frossard P M, Al-Awar B
Abstract excerpt
We compared the clinical severity associated with the two cystic fibrosis (CF) mutations S549R(T-->G) and deltaF508. Clinical and biochemical variables of CF were compared in two age- and sex-matched groups of CF children in the United Arab Emirates (UAE). The clinical severity of mutations S549R(T-->G) and deltaF508 showed comparable patterns, with very low Shwachman scores and high sweat chloride levels. We...
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