{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:02:26Z","timestamp":1777356146793,"version":"3.51.4"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,4,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar.<\/jats:p>","DOI":"10.1093\/tropej\/47.2.110a","type":"journal-article","created":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T11:07:38Z","timestamp":1563188858000},"page":"110-112","source":"Crossref","is-referenced-by-count":33,"title":["Heterogeneity of the Cystic Fibrosis Phenotype in a Large Kindred Family in Qatar with Cystic Fibrosis Mutation (I1234V)"],"prefix":"10.1093","volume":"47","author":[{"given":"A. Abdul","family":"Wahab","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Al Thani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. T.","family":"Dawod","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kambouris","sequence":"additional","affiliation":[{"name":"Department of DNA Diagnostic Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Al Hamed","sequence":"additional","affiliation":[{"name":"Department of DNA Diagnostic Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2001,4,1]]},"container-title":["Journal of Tropical Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/tropej\/article-pdf\/47\/2\/110\/28935556\/470108.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T11:07:38Z","timestamp":1563188858000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/tropej\/article\/47\/2\/110\/5532263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,1]]},"references-count":0,"aliases":["10.1093\/tropej\/47.2.110-a"],"journal-issue":{"issue":"2","published-online":{"date-parts":[[2001,4,1]]},"published-print":{"date-parts":[[2001,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/tropej\/47.2.110a","relation":{},"ISSN":["1465-3664"],"issn-type":[{"value":"1465-3664","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2001,4]]},"published":{"date-parts":[[2001,4,1]]}}}