Article
[Clinical aspects and genetic specificities of cystic fibrosis in Reunion Island].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Nov 2003
Flodrops H, Renouil M, Lesure F, Maréchal D, Piyaraly S, Arvin-Bérod C, Robillard P Y, Fourmaintraux A, Cartault F
Abstract excerpt
OBJECTIVES: Evaluation of the phenotype-genotype correlation of a specific mucoviscidosis mutation, "Y122X", in Reunion Island. This mutation represents 25% of our cases. PATIENTS AND METHODS: Retrospective study of a cohort of 84 children presenting cystic fibrosis (CF) during a 5-year period (1994-1998). Diagnosis was based on one or two identified genetic mutations and/or minimum two abnormal chloride sweat...
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