Article
Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.
American journal of medical genetics - 1 Apr 1998
Rabbi-Bortolini E, Bernardino A L, Lopes A L, Ferri A S, Passos-Bueno M R, Zatz M
Abstract excerpt
A total of 540 individuals with clinical signs suggestive of cystic fibrosis (CF) was studied. The sweat chloride was measured and the DF508, G542X, R553X, and W1282X mutations of the CF gene were screened by polymerase chain reaction (PCR). With this approach the diagnosis of CF was confirmed in 12 children, while 7 additional cases, who are heterozygous for the DF508 mutation, have had minor clinical signs. The...
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