oa An Egyptian Infant with Cystic Fibrosis Mutation N1303K

References

1. Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science. 1992; 256::774–876.
   [Google Scholar]
2. Stern M, Geddes D. Cystic fibrosis: basic chemical and cellular mechanisms. Br J Hosp Med. 1996; 55::237–240.
   [Google Scholar]
3. Tsui LC. The cystic fibrosis trans-membrane conductance regulator gene. Am J Respir Crit Care Med. 1993; 151::S47–S53.
   [Google Scholar]
4. Cystic Fibrosis Genetic Analysis Consortium CFTR Mutation Tabl, 2002. http://www.genet.sickkids.on.ca/cftr/.
5. Welsh MJ, Tsui I, Boat TF, Beaudet AL. Cystic fibrosis. In: Scriver CRBeaudet ALSlys Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th edition. New York: McGraw-Hill 1995;:3799–3876.
   [Google Scholar]
6. El Harith EA, Dork T, Stuhmann M, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller K M, Lentze MJ, Schmidtke J. Novel and characteristic CFTR mutations in Saudi Arabian children with severe cystic fibrosis. J Med Genet. 1997; 34::996–999.
   [Google Scholar]
7. Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M. Heterogeneity of the Cystic Fibrosis Phenotype in a Large Kindred Family in Qatar with Cystic Fibrosis Mutation {11234V). J Trop Pediatr. 2001; 47::110–112.
   [Google Scholar]
8. Rawashdeh M, Manal H. Cystic fibrosis in Arabs: a prototype from Jordan. Ann Trop Pediatr. 2000; 20:4:283–286.
   [Google Scholar]
9. Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. Cystic fibrosis in Lebanon: distribution of CFTR mutation among Arab communities. Hum Genet. 1997; 100:2:279–283.
   [Google Scholar]
10. Osborne L, Knight R, Santis G, Hodson ME. A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet. 1991; 48::608–612.
    [Google Scholar]
11. Ko YH, Pedersen PL:. The first nucleotide binding fold of cystic fibrosis transmembrane conductance regulator can function as an active ATPase. J Biol Chem. 1995; 270::22093–22096.
    [Google Scholar]
12. Osborne L, Santis G, Schwarz M, Klinger K, Dork T, Mcintosh I, Nunes V, Macek M Jr, Reiss J, et al., Incidence and expression of the the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet. 1992; 89:6:653–658.
    [Google Scholar]
13. Banjar H, Kambouris M, Meyer BF, Al Mehaidib A, Mogarri I. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Pediatr. 1999; 19::69–73.
    [Google Scholar]
14. Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of272 cystic fibrosis mutation in European populations. The Biomed CF Mutations Analysis Consortum. Hum Mutat. 1997; 10:2:135–154.
    [Google Scholar]
15. Gottlieb RP. Metabolic alkalosis in cystic fibrosis. J Pediatr. 1971; 79::930–936.
    [Google Scholar]
16. Beckerman RC, Taussig LM. Hypoelectrolytaemia and mtabolic alkalosis in jnfants with cystic fibrosis. Pediatrics. 1979;:580–583.
    [Google Scholar]
17. Kessler WR, Anderson DH:. Heat prostration in fibrocystic disease of the pancreas and other conditions. Pediatrics. 1951; 8::648.
    [Google Scholar]