FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016293260> ?p ?o ?g. }

• W2016293260 endingPage "392" @default.
• W2016293260 startingPage "387" @default.
• W2016293260 abstract "We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung radiological involvement (Chrispin-Norman) and general status (Shwachman-Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the ΔF508/ΔF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl-values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the ΔF508/ΔF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the ΔF508/ΔF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival. Hum Mutat 10:387–392, 1997. © 1997 Wiley-Liss, Inc." @default.
• W2016293260 created "2016-06-24" @default.
• W2016293260 creator A5000885820 @default.
• W2016293260 creator A5004551648 @default.
• W2016293260 creator A5006422884 @default.
• W2016293260 creator A5014008768 @default.
• W2016293260 creator A5016077414 @default.
• W2016293260 creator A5016410358 @default.
• W2016293260 creator A5021061044 @default.
• W2016293260 creator A5025684131 @default.
• W2016293260 creator A5031153935 @default.
• W2016293260 creator A5048582522 @default.
• W2016293260 creator A5049108731 @default.
• W2016293260 creator A5049164024 @default.
• W2016293260 creator A5055666502 @default.
• W2016293260 creator A5055979898 @default.
• W2016293260 creator A5056061725 @default.
• W2016293260 creator A5057156835 @default.
• W2016293260 creator A5071117266 @default.
• W2016293260 creator A5076400530 @default.
• W2016293260 creator A5082871985 @default.
• W2016293260 creator A5085943110 @default.
• W2016293260 date "1997-01-01" @default.
• W2016293260 modified "2023-09-26" @default.
• W2016293260 title "Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients" @default.
• W2016293260 cites W1968561725 @default.
• W2016293260 cites W1969697265 @default.
• W2016293260 cites W1970775609 @default.
• W2016293260 cites W1980180966 @default.
• W2016293260 cites W1983201355 @default.
• W2016293260 cites W1993530509 @default.
• W2016293260 cites W1997423820 @default.
• W2016293260 cites W2013912459 @default.
• W2016293260 cites W2016073646 @default.
• W2016293260 cites W2016383087 @default.
• W2016293260 cites W2019702541 @default.
• W2016293260 cites W2028859322 @default.
• W2016293260 cites W2028867864 @default.
• W2016293260 cites W2033926035 @default.
• W2016293260 cites W2048858469 @default.
• W2016293260 cites W2052588826 @default.
• W2016293260 cites W2064390823 @default.
• W2016293260 cites W2065541938 @default.
• W2016293260 cites W2073827407 @default.
• W2016293260 cites W2077747690 @default.
• W2016293260 cites W2094020724 @default.
• W2016293260 cites W2113777285 @default.
• W2016293260 cites W2125391335 @default.
• W2016293260 cites W2126609769 @default.
• W2016293260 cites W2141755630 @default.
• W2016293260 cites W2152033571 @default.
• W2016293260 cites W2155819273 @default.
• W2016293260 cites W2327703579 @default.
• W2016293260 cites W2336764462 @default.
• W2016293260 cites W2337925307 @default.
• W2016293260 doi "https://doi.org/10.1002/(sici)1098-1004(1997)10:5<387::aid-humu9>3.0.co;2-c" @default.
• W2016293260 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9375855" @default.
• W2016293260 hasPublicationYear "1997" @default.
• W2016293260 type Work @default.
• W2016293260 sameAs 2016293260 @default.
• W2016293260 citedByCount "13" @default.
• W2016293260 countsByYear W20162932602013 @default.
• W2016293260 countsByYear W20162932602015 @default.
• W2016293260 countsByYear W20162932602020 @default.
• W2016293260 countsByYear W20162932602023 @default.
• W2016293260 crossrefType "journal-article" @default.
• W2016293260 hasAuthorship W2016293260A5000885820 @default.
• W2016293260 hasAuthorship W2016293260A5004551648 @default.
• W2016293260 hasAuthorship W2016293260A5006422884 @default.
• W2016293260 hasAuthorship W2016293260A5014008768 @default.
• W2016293260 hasAuthorship W2016293260A5016077414 @default.
• W2016293260 hasAuthorship W2016293260A5016410358 @default.
• W2016293260 hasAuthorship W2016293260A5021061044 @default.
• W2016293260 hasAuthorship W2016293260A5025684131 @default.
• W2016293260 hasAuthorship W2016293260A5031153935 @default.
• W2016293260 hasAuthorship W2016293260A5048582522 @default.
• W2016293260 hasAuthorship W2016293260A5049108731 @default.
• W2016293260 hasAuthorship W2016293260A5049164024 @default.
• W2016293260 hasAuthorship W2016293260A5055666502 @default.
• W2016293260 hasAuthorship W2016293260A5055979898 @default.
• W2016293260 hasAuthorship W2016293260A5056061725 @default.
• W2016293260 hasAuthorship W2016293260A5057156835 @default.
• W2016293260 hasAuthorship W2016293260A5071117266 @default.
• W2016293260 hasAuthorship W2016293260A5076400530 @default.
• W2016293260 hasAuthorship W2016293260A5082871985 @default.
• W2016293260 hasAuthorship W2016293260A5085943110 @default.
• W2016293260 hasBestOaLocation W20162932601 @default.
• W2016293260 hasConcept C104317684 @default.
• W2016293260 hasConcept C126322002 @default.
• W2016293260 hasConcept C172680121 @default.
• W2016293260 hasConcept C2776938444 @default.
• W2016293260 hasConcept C2777893369 @default.
• W2016293260 hasConcept C2778428886 @default.
• W2016293260 hasConcept C2779234561 @default.
• W2016293260 hasConcept C2780985857 @default.
• W2016293260 hasConcept C2910510515 @default.
• W2016293260 hasConcept C501734568 @default.
• W2016293260 hasConcept C54355233 @default.

• next