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East Mediterr Health J. 2001 Nov;7(6):975-80.

Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).

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1
Department of Paediatrics, Faculty of Medicine and Health Science, UAE University, Al-Ain, United Arab Emirates.

Abstract

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 conclude that patients homozygous for the CF mutations deltaF508 and S549R(T-->G) have a severe clinical presentation and illness and are indistinguishable on clinical grounds.

PMID:
15332739
[Indexed for MEDLINE]

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