{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:14:49Z","timestamp":1790709289963,"version":"4.1.0"},"reference-count":0,"publisher":"European Respiratory Society (ERS)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Respir J"],"published-print":{"date-parts":[[1999,1,1]]},"abstract":"<jats:p>With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regulator (CFTR) mutation S549R(T--&gt;G was investigated. This mutation is localized in intron 11 (nucleotide binding domain 1 of the CFTR protein) and had so far been described as a private mutation only. The associations between the R549\/R549 genotype and 20 outcome variables, including age at diagnosis, sweat chloride concentrations, growth percentiles, meconium ileus, pancreatic sufficiency, pulmonary disease, associated complications and micro-organism colonization were examined in a group of 15 CF children (9 females and 6 males). Mean current age and age at diagnosis were both low (5.4+\/-3.5 and 1.0+\/-1.1 yrs, respectively). Although none of the 15 CF patients had presented with meconium ileus at birth, all were pancreatic insufficient and had very severe lung disease, with a high rate of Pseudomonas aeruginosa and Staphylococcus aureus. Two patients died during the course of this investigation (one was 5 months and the other, 6 yrs old). The clinical presentation associated with S549R(T--&gt;G) homozygosity in the United Arab Emirates is quite homogeneous and shows an extreme degree and course of cystic fibrosis severity.<\/jats:p>","DOI":"10.1183\/09031936.99.13110099","type":"journal-article","created":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T23:21:54Z","timestamp":1033514514000},"page":"100-102","source":"Crossref","is-referenced-by-count":18,"title":["Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T--&gt;G)"],"prefix":"10.1183","volume":"13","author":[{"given":"PM","family":"Frossard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hertecant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Bossaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KP","family":"Dawson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[1999,1,1]]},"container-title":["European Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/09031936.99.13110099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T13:15:52Z","timestamp":1745241352000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/09031936.99.13110099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,1,1]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1999,1,1]]},"published-print":{"date-parts":[[1999,1,1]]}},"alternative-id":["10.1183\/09031936.99.13110099"],"URL":"https:\/\/doi.org\/10.1183\/09031936.99.13110099","relation":{},"ISSN":["0903-1936","1399-3003"],"issn-type":[{"value":"0903-1936","type":"print"},{"value":"1399-3003","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,1,1]]}}}