FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155331336> ?p ?o ?g. }

• W2155331336 endingPage "2765" @default.
• W2155331336 startingPage "2759" @default.
• W2155331336 abstract "Hemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of patients with HA, no mutation is found in the F8 gene. Among this group, we report here on one patient with severe HA in whom no mRNA of the F8 gene was detected. Using 2 common polymorphisms in F8 exon 14, we were able to show that the same allele shared by the patient, his mother, and his sister was not detected by reverse transcription-polymerase chain reaction (RT-PCR) from total blood mRNA. Skewed X-chromosome inactivation in both the mother and the sister was excluded by studying the methylation profile of the androgen receptor gene (HUMARA locus). These findings strongly suggest that the cause of HA in this patient is either absence or rapid degradation of the F8 mRNA, which points to a novel mechanism leading to HA." @default.
• W2155331336 created "2016-06-24" @default.
• W2155331336 creator A5005271010 @default.
• W2155331336 creator A5008880666 @default.
• W2155331336 creator A5017474493 @default.
• W2155331336 creator A5028276574 @default.
• W2155331336 creator A5031092843 @default.
• W2155331336 creator A5036629523 @default.
• W2155331336 creator A5056118165 @default.
• W2155331336 creator A5056910106 @default.
• W2155331336 creator A5064155313 @default.
• W2155331336 creator A5072541576 @default.
• W2155331336 creator A5073911956 @default.
• W2155331336 creator A5074175204 @default.
• W2155331336 creator A5077755552 @default.
• W2155331336 creator A5087697830 @default.
• W2155331336 date "2006-04-01" @default.
• W2155331336 modified "2023-09-27" @default.
• W2155331336 title "Lack of F8 mRNA: a novel mechanism leading to hemophilia A" @default.
• W2155331336 cites W113984154 @default.
• W2155331336 cites W1481497811 @default.
• W2155331336 cites W1686333409 @default.
• W2155331336 cites W1735884017 @default.
• W2155331336 cites W1754568015 @default.
• W2155331336 cites W1980406830 @default.
• W2155331336 cites W1988291930 @default.
• W2155331336 cites W2008715590 @default.
• W2155331336 cites W2025312397 @default.
• W2155331336 cites W2025433995 @default.
• W2155331336 cites W2051768266 @default.
• W2155331336 cites W2052218777 @default.
• W2155331336 cites W2057829817 @default.
• W2155331336 cites W2067245109 @default.
• W2155331336 cites W2079774878 @default.
• W2155331336 cites W2090806216 @default.
• W2155331336 cites W2092813426 @default.
• W2155331336 cites W2104774704 @default.
• W2155331336 cites W2130261067 @default.
• W2155331336 cites W2147094460 @default.
• W2155331336 cites W2153145187 @default.
• W2155331336 cites W2170735128 @default.
• W2155331336 cites W2423727988 @default.
• W2155331336 doi "https://doi.org/10.1182/blood-2005-09-3702" @default.
• W2155331336 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16339403" @default.
• W2155331336 hasPublicationYear "2006" @default.
• W2155331336 type Work @default.
• W2155331336 sameAs 2155331336 @default.
• W2155331336 citedByCount "29" @default.
• W2155331336 countsByYear W21553313362012 @default.
• W2155331336 countsByYear W21553313362013 @default.
• W2155331336 countsByYear W21553313362014 @default.
• W2155331336 countsByYear W21553313362015 @default.
• W2155331336 countsByYear W21553313362017 @default.
• W2155331336 countsByYear W21553313362020 @default.
• W2155331336 crossrefType "journal-article" @default.
• W2155331336 hasAuthorship W2155331336A5005271010 @default.
• W2155331336 hasAuthorship W2155331336A5008880666 @default.
• W2155331336 hasAuthorship W2155331336A5017474493 @default.
• W2155331336 hasAuthorship W2155331336A5028276574 @default.
• W2155331336 hasAuthorship W2155331336A5031092843 @default.
• W2155331336 hasAuthorship W2155331336A5036629523 @default.
• W2155331336 hasAuthorship W2155331336A5056118165 @default.
• W2155331336 hasAuthorship W2155331336A5056910106 @default.
• W2155331336 hasAuthorship W2155331336A5064155313 @default.
• W2155331336 hasAuthorship W2155331336A5072541576 @default.
• W2155331336 hasAuthorship W2155331336A5073911956 @default.
• W2155331336 hasAuthorship W2155331336A5074175204 @default.
• W2155331336 hasAuthorship W2155331336A5077755552 @default.
• W2155331336 hasAuthorship W2155331336A5087697830 @default.
• W2155331336 hasBestOaLocation W21553313361 @default.
• W2155331336 hasConcept C121332964 @default.
• W2155331336 hasConcept C185592680 @default.
• W2155331336 hasConcept C62520636 @default.
• W2155331336 hasConcept C71924100 @default.
• W2155331336 hasConcept C89611455 @default.
• W2155331336 hasConceptScore W2155331336C121332964 @default.
• W2155331336 hasConceptScore W2155331336C185592680 @default.
• W2155331336 hasConceptScore W2155331336C62520636 @default.
• W2155331336 hasConceptScore W2155331336C71924100 @default.
• W2155331336 hasConceptScore W2155331336C89611455 @default.
• W2155331336 hasIssue "7" @default.
• W2155331336 hasLocation W21553313361 @default.
• W2155331336 hasOpenAccess W2155331336 @default.
• W2155331336 hasPrimaryLocation W21553313361 @default.
• W2155331336 hasRelatedWork W1531601525 @default.
• W2155331336 hasRelatedWork W2319480705 @default.
• W2155331336 hasRelatedWork W2384464875 @default.
• W2155331336 hasRelatedWork W2606230654 @default.
• W2155331336 hasRelatedWork W2607424097 @default.
• W2155331336 hasRelatedWork W2748952813 @default.
• W2155331336 hasRelatedWork W2899084033 @default.
• W2155331336 hasRelatedWork W2948807893 @default.
• W2155331336 hasRelatedWork W3031052312 @default.
• W2155331336 hasRelatedWork W2778153218 @default.
• W2155331336 hasVolume "107" @default.
• W2155331336 isParatext "false" @default.
• W2155331336 isRetracted "false" @default.
• W2155331336 magId "2155331336" @default.

• next