Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G]
EMHJ-Eastern Mediterranean Health Journal. 2001; 7 (6): 975-980
en Inglés
| 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
Buscar en Google
Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Fenotipo
/
Índice de Severidad de la Enfermedad
/
Preescolar
/
Cloruros
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Sustitución de Aminoácidos
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
East Mediterr Health J.
Año:
2001
Similares
MEDLINE
...
LILACS
LIS