1,721,034 research outputs found
Enzymic activities of the brushborder membrane of rat intestine hydrolyzing -naphthylamides of amino acids,leucinamide and dipeptides. Biochim Biophys Acta.9;274(2):420-5. PubMed
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Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.
No full textThe clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected
Clinical features of cystic fibrosis patients bearing rare genotypes.
No full textWe describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA→G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the 2183 AA→G mutation or for the I148T mutation, in both instances with the ΔF508 mutation; and (2) a patient homozygous for the early nonsense R553X mutation who showed only a moderately severe form of cystic fibrosis. Our results confirm that environmental or genetic factors unrelated to the CF disease contribute significantly to the development of the phenotype
Gliadin-induced changes in the expression of MHC-class II antigens by human small intestinal epithelium. Organ culture studies with coeliac disease mucosa.
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