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Full-Text Articles in Medicine and Health Sciences
Job's Syndrome, M A. Yousafzai, K Nasim, S Q. Nizami
Job's Syndrome, M A. Yousafzai, K Nasim, S Q. Nizami
Department of Paediatrics and Child Health
No abstract provided.
Why Has So Little Changed In Maternal And Child Health In South Asia?, Z A. Bhutta
Why Has So Little Changed In Maternal And Child Health In South Asia?, Z A. Bhutta
Department of Paediatrics and Child Health
No abstract provided.
Genetic Analysis Of Cystic Fibrosis In Pakistan: A Preliminary Report, Z A. Bhutta, T Moattar, U Shah
Genetic Analysis Of Cystic Fibrosis In Pakistan: A Preliminary Report, Z A. Bhutta, T Moattar, U Shah
Department of Paediatrics and Child Health
Objective: Evaluation of the incidence of common delta F508 mutation in a cohort of Pakistani children with Cystic Fibrosis (CF).
Methodology: The presence of the CFTR gene mutation at position 508 (delta F508) was evaluated in 15 consecutively presenting children with CF, proven by clinical features and an unequivocally positive sweat chloride test. The DNA from mononuclear cells was extracted and the delta F508 mutation assessed by the amplification refractory mutation system using the polymerase chain reaction.
Results: The delta F508 mutation was found in 9 cases (60%), of which 5 were homozygous for the disorder.
Conclusion: In this preliminary …