Danish Saleheen, Philippe M Frossard, Emmanuelle Girodon.
[3120+1kbdel8.6kb]+[p.N1303K] Genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.
J Ayub Med Coll Abottabad Jan ;18(3):69-71.

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder in Caucasian population. The disease was initially considered to be rare in Middle Eastern countries. 95% of CF in Emirati families is due to two mutations only – p.S549R(T>G) and p.F508del. We report here the case of a patient referred to CF and Respiratory Clinic at Tawam Hospital for cystic fibrosis transmembrane regulator (CFTR) gene screening to ascertain the diagnosis of CF, who was found to carry a unique genotype, signifying the importance of retrieving ancestral histories of patients with monogenic disorders

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com