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- Q423990 subject Q8439242.
- Q423990 subject Q8803209.
- Q423990 abstract "ΔF508 (delta-F508, full name CFTRΔF508 or F508del-CFTR; rs113993960) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508. A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is the leading cause of cystic fibrosis (CF).".
- Q423990 wikiPageExternalLink snp_ref.cgi?rs=113993960.
- Q423990 wikiPageExternalLink subtypes.htm.
- Q423990 wikiPageWikiLink Q108200.
- Q423990 wikiPageWikiLink Q12090.
- Q423990 wikiPageWikiLink Q1219805.
- Q423990 wikiPageWikiLink Q12204.
- Q423990 wikiPageWikiLink Q13048280.
- Q423990 wikiPageWikiLink Q1425030.
- Q423990 wikiPageWikiLink Q14390.
- Q423990 wikiPageWikiLink Q145911.
- Q423990 wikiPageWikiLink Q14864712.
- Q423990 wikiPageWikiLink Q1561647.
- Q423990 wikiPageWikiLink Q160821.
- Q423990 wikiPageWikiLink Q170545.
- Q423990 wikiPageWikiLink Q178194.
- Q423990 wikiPageWikiLink Q180618.
- Q423990 wikiPageWikiLink Q185055.
- Q423990 wikiPageWikiLink Q194290.
- Q423990 wikiPageWikiLink Q2873354.
- Q423990 wikiPageWikiLink Q28745.
- Q423990 wikiPageWikiLink Q40878.
- Q423990 wikiPageWikiLink Q42918.
- Q423990 wikiPageWikiLink Q46.
- Q423990 wikiPageWikiLink Q484940.
- Q423990 wikiPageWikiLink Q54237.
- Q423990 wikiPageWikiLink Q7129609.
- Q423990 wikiPageWikiLink Q7187.
- Q423990 wikiPageWikiLink Q735505.
- Q423990 wikiPageWikiLink Q7430.
- Q423990 wikiPageWikiLink Q79927.
- Q423990 wikiPageWikiLink Q8054.
- Q423990 wikiPageWikiLink Q8066.
- Q423990 wikiPageWikiLink Q83319.
- Q423990 wikiPageWikiLink Q8439242.
- Q423990 wikiPageWikiLink Q8803209.
- Q423990 comment "ΔF508 (delta-F508, full name CFTRΔF508 or F508del-CFTR; rs113993960) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508. A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue.".
- Q423990 label "ΔF508".