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CFTR mutation in an Arab patient: Clinical and functional features of 875+1G-A/875+1G-A genotype
Journal of Cystic Fibrosis , 06/22/09
Spinelli E et al. - The authors have described an 875+1G-A mutation, found for the first time in a homozygous state in an 8 yr old boy. He was the child of a couple of Egyptian first level cousins, both carriers of the mutation. The functional test revealed the 875+1G-A to be a severe mutation, leading to defective protein function as detected by nasal potential difference (NPD) measurements.
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Serologically verified human bocavirus pneumonia in children
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Modifiable Risk Factors for Asthma Morbidity in Bronx Versus Other Inner-City Children
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