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Title: Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G]
Authors: Dawson, K.P.
Frossard, P.M.
Al Awar, B.
Issue Date: 2001
Language: English
Abstract: We compared the clinical severity associated with the two cystic fibrosis [CF] mutations S549R[T[R]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[R]G] and delta F508 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[R]G] have a severe clinical presentation and illness and are indistinguishable on clinical grounds
Description: 975-980
Keywords: Amino Acid Substitution
Child, Preschool
Chlorides
Cystic Fibrosis Transmembrane Conductance Regulator
Homozygot
Mutation
Phenotype
Severity of Illness Index
Subject: Cystic Fibrosis
URI: http://www.who.int/iris/handle/10665/119115
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/0706/emhj_2001_7_6_975_980.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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