Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G]
(East. Mediterr. health j).
in English
| WHO IRIS
| ID: who-119115
Responsible library:
CH1.1
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
Full text:
Available
Collection:
Databases of international organizations
Database:
WHO IRIS
Main subject:
Phenotype
/
Severity of Illness Index
/
Child, Preschool
/
Chlorides
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Amino Acid Substitution
/
Cystic Fibrosis
/
Mutation
Language:
English
Journal:
East. Mediterr. health j
Year:
2001