Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G]
EMHJ-Eastern Mediterranean Health Journal. 2001; 7 (6): 975-980
in English
| IMEMR
| ID: emr-158020
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Phenotype
/
Severity of Illness Index
/
Child, Preschool
/
Chlorides
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Amino Acid Substitution
/
Mutation
Limits:
Child
/
Female
/
Humans
/
Male
Language:
English
Journal:
East Mediterr Health J.
Year:
2001
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