Matches in SemOpenAlex for { <https://semopenalex.org/work/W2076774328> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2076774328 endingPage "197" @default.
- W2076774328 startingPage "195" @default.
- W2076774328 abstract "Haemophilia B is an X-linked disease affecting 1 in 30 000 males. Carrier diagnosis is usually carried out only in female relatives of haemophilic males, and the likelihood of discovering a carrier without a haemophilic male is very low. In this report we present the cases of two related women without a family history of haemophilia who were diagnosed as haemophilia B carriers. Following a minor haemorrhage in the proband, she and her mother were thought to be haemophilia B carriers because of a low factor IX level (16 and 23 IU dL-1, respectively; normal values >50 IU dL-1). The non-sense mutation C31118T, which is associated with severe haemophilia B, was detected in both women. This allowed us to diagnose them as being definite carriers of severe haemophilia B and give appropriate genetic counselling." @default.
- W2076774328 created "2016-06-24" @default.
- W2076774328 creator A5003052753 @default.
- W2076774328 creator A5019468761 @default.
- W2076774328 creator A5031544799 @default.
- W2076774328 creator A5053305023 @default.
- W2076774328 creator A5086443586 @default.
- W2076774328 date "2000-05-01" @default.
- W2076774328 modified "2023-09-27" @default.
- W2076774328 title "Diagnosis of two related carriers of severe haemophilia B with no family history" @default.
- W2076774328 cites W2046934338 @default.
- W2076774328 cites W2073952493 @default.
- W2076774328 cites W2081950686 @default.
- W2076774328 cites W4246226221 @default.
- W2076774328 doi "https://doi.org/10.1046/j.1365-2516.2000.00389.x" @default.
- W2076774328 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10792479" @default.
- W2076774328 hasPublicationYear "2000" @default.
- W2076774328 type Work @default.
- W2076774328 sameAs 2076774328 @default.
- W2076774328 citedByCount "1" @default.
- W2076774328 crossrefType "journal-article" @default.
- W2076774328 hasAuthorship W2076774328A5003052753 @default.
- W2076774328 hasAuthorship W2076774328A5019468761 @default.
- W2076774328 hasAuthorship W2076774328A5031544799 @default.
- W2076774328 hasAuthorship W2076774328A5053305023 @default.
- W2076774328 hasAuthorship W2076774328A5086443586 @default.
- W2076774328 hasConcept C104317684 @default.
- W2076774328 hasConcept C126322002 @default.
- W2076774328 hasConcept C187212893 @default.
- W2076774328 hasConcept C188997412 @default.
- W2076774328 hasConcept C2777081929 @default.
- W2076774328 hasConcept C2777232031 @default.
- W2076774328 hasConcept C2778385053 @default.
- W2076774328 hasConcept C2779134260 @default.
- W2076774328 hasConcept C2781179581 @default.
- W2076774328 hasConcept C2781221834 @default.
- W2076774328 hasConcept C501734568 @default.
- W2076774328 hasConcept C54355233 @default.
- W2076774328 hasConcept C71924100 @default.
- W2076774328 hasConcept C80227256 @default.
- W2076774328 hasConcept C86803240 @default.
- W2076774328 hasConceptScore W2076774328C104317684 @default.
- W2076774328 hasConceptScore W2076774328C126322002 @default.
- W2076774328 hasConceptScore W2076774328C187212893 @default.
- W2076774328 hasConceptScore W2076774328C188997412 @default.
- W2076774328 hasConceptScore W2076774328C2777081929 @default.
- W2076774328 hasConceptScore W2076774328C2777232031 @default.
- W2076774328 hasConceptScore W2076774328C2778385053 @default.
- W2076774328 hasConceptScore W2076774328C2779134260 @default.
- W2076774328 hasConceptScore W2076774328C2781179581 @default.
- W2076774328 hasConceptScore W2076774328C2781221834 @default.
- W2076774328 hasConceptScore W2076774328C501734568 @default.
- W2076774328 hasConceptScore W2076774328C54355233 @default.
- W2076774328 hasConceptScore W2076774328C71924100 @default.
- W2076774328 hasConceptScore W2076774328C80227256 @default.
- W2076774328 hasConceptScore W2076774328C86803240 @default.
- W2076774328 hasIssue "3" @default.
- W2076774328 hasLocation W20767743281 @default.
- W2076774328 hasLocation W20767743282 @default.
- W2076774328 hasOpenAccess W2076774328 @default.
- W2076774328 hasPrimaryLocation W20767743281 @default.
- W2076774328 hasRelatedWork W123979849 @default.
- W2076774328 hasRelatedWork W163642515 @default.
- W2076774328 hasRelatedWork W1990435025 @default.
- W2076774328 hasRelatedWork W2017847846 @default.
- W2076774328 hasRelatedWork W2043819617 @default.
- W2076774328 hasRelatedWork W2054762959 @default.
- W2076774328 hasRelatedWork W2076774328 @default.
- W2076774328 hasRelatedWork W2322656026 @default.
- W2076774328 hasRelatedWork W2333416859 @default.
- W2076774328 hasRelatedWork W2342241249 @default.
- W2076774328 hasVolume "6" @default.
- W2076774328 isParatext "false" @default.
- W2076774328 isRetracted "false" @default.
- W2076774328 magId "2076774328" @default.
- W2076774328 workType "article" @default.