FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2122302303> ?p ?o ?g. }

• W2122302303 endingPage "646" @default.
• W2122302303 startingPage "642" @default.
• W2122302303 abstract "Background Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta‐aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosis and knowledge of patterns of inheritance. Objectives To investigate the molecular epidemiology of EPP in the U.K. Methods DNA samples from 191 unrelated patients resident in the U.K. were analysed for mutations in the FECH and ALAS2 genes and for the FECH IVS3‐48 dimorphism. Results Mutations were identified in 179 (94%) patients. Most (169; 94%) had a FECH mutation on one allele and were classified as having pseudodominant EPP (psdEPP); seven (4%) patients had FECH mutations on both alleles (autosomal recessive EPP) and three (2%) patients had ALAS2 mutations (X‐linked dominant protoporphyria). The FECH IVS3‐48C allele was strongly associated with psdEPP and with the absence of mutations at the FECH or ALAS2 loci. Fifty‐six FECH mutations were identified, 19 being previously unreported. Missense mutations were predominant in autosomal recessive EPP (82%) but not in psdEPP (32%). One mutation (c.314 + 2T>G) was present in 41 (24%) of EPP families, most of whom appeared to be descended from a common ancestor resident in the north of England. Conclusions These data define the prevalence and molecular epidemiology of each type of EPP in the U.K." @default.
• W2122302303 created "2016-06-24" @default.
• W2122302303 creator A5041686700 @default.
• W2122302303 creator A5042312381 @default.
• W2122302303 creator A5061867731 @default.
• W2122302303 creator A5066619588 @default.
• W2122302303 creator A5075529820 @default.
• W2122302303 creator A5078879011 @default.
• W2122302303 date "2010-01-22" @default.
• W2122302303 modified "2023-09-27" @default.
• W2122302303 title "Molecular epidemiology of erythropoietic protoporphyria in the U.K." @default.
• W2122302303 cites W1970470737 @default.
• W2122302303 cites W1975436079 @default.
• W2122302303 cites W1979938212 @default.
• W2122302303 cites W1992759163 @default.
• W2122302303 cites W2001460737 @default.
• W2122302303 cites W2012757149 @default.
• W2122302303 cites W2015073093 @default.
• W2122302303 cites W2024369650 @default.
• W2122302303 cites W2055704560 @default.
• W2122302303 cites W2056259290 @default.
• W2122302303 cites W2058087532 @default.
• W2122302303 cites W2058213204 @default.
• W2122302303 cites W2079332579 @default.
• W2122302303 cites W2093804948 @default.
• W2122302303 cites W2107857612 @default.
• W2122302303 cites W2125332090 @default.
• W2122302303 cites W2141169589 @default.
• W2122302303 cites W2159856332 @default.
• W2122302303 cites W2164068589 @default.
• W2122302303 cites W2390390617 @default.
• W2122302303 cites W4211108182 @default.
• W2122302303 cites W4241502198 @default.
• W2122302303 doi "https://doi.org/10.1111/j.1365-2133.2010.09631.x" @default.
• W2122302303 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20105171" @default.
• W2122302303 hasPublicationYear "2010" @default.
• W2122302303 type Work @default.
• W2122302303 sameAs 2122302303 @default.
• W2122302303 citedByCount "51" @default.
• W2122302303 countsByYear W21223023032012 @default.
• W2122302303 countsByYear W21223023032013 @default.
• W2122302303 countsByYear W21223023032014 @default.
• W2122302303 countsByYear W21223023032015 @default.
• W2122302303 countsByYear W21223023032016 @default.
• W2122302303 countsByYear W21223023032017 @default.
• W2122302303 countsByYear W21223023032018 @default.
• W2122302303 countsByYear W21223023032019 @default.
• W2122302303 countsByYear W21223023032020 @default.
• W2122302303 countsByYear W21223023032021 @default.
• W2122302303 countsByYear W21223023032022 @default.
• W2122302303 crossrefType "journal-article" @default.
• W2122302303 hasAuthorship W2122302303A5041686700 @default.
• W2122302303 hasAuthorship W2122302303A5042312381 @default.
• W2122302303 hasAuthorship W2122302303A5061867731 @default.
• W2122302303 hasAuthorship W2122302303A5066619588 @default.
• W2122302303 hasAuthorship W2122302303A5075529820 @default.
• W2122302303 hasAuthorship W2122302303A5078879011 @default.
• W2122302303 hasConcept C104317684 @default.
• W2122302303 hasConcept C127716648 @default.
• W2122302303 hasConcept C180754005 @default.
• W2122302303 hasConcept C181199279 @default.
• W2122302303 hasConcept C200544954 @default.
• W2122302303 hasConcept C2776217839 @default.
• W2122302303 hasConcept C2777799353 @default.
• W2122302303 hasConcept C2778417259 @default.
• W2122302303 hasConcept C2779480358 @default.
• W2122302303 hasConcept C2781149050 @default.
• W2122302303 hasConcept C501734568 @default.
• W2122302303 hasConcept C54355233 @default.
• W2122302303 hasConcept C55493867 @default.
• W2122302303 hasConcept C75563809 @default.
• W2122302303 hasConcept C86803240 @default.
• W2122302303 hasConceptScore W2122302303C104317684 @default.
• W2122302303 hasConceptScore W2122302303C127716648 @default.
• W2122302303 hasConceptScore W2122302303C180754005 @default.
• W2122302303 hasConceptScore W2122302303C181199279 @default.
• W2122302303 hasConceptScore W2122302303C200544954 @default.
• W2122302303 hasConceptScore W2122302303C2776217839 @default.
• W2122302303 hasConceptScore W2122302303C2777799353 @default.
• W2122302303 hasConceptScore W2122302303C2778417259 @default.
• W2122302303 hasConceptScore W2122302303C2779480358 @default.
• W2122302303 hasConceptScore W2122302303C2781149050 @default.
• W2122302303 hasConceptScore W2122302303C501734568 @default.
• W2122302303 hasConceptScore W2122302303C54355233 @default.
• W2122302303 hasConceptScore W2122302303C55493867 @default.
• W2122302303 hasConceptScore W2122302303C75563809 @default.
• W2122302303 hasConceptScore W2122302303C86803240 @default.
• W2122302303 hasIssue "3" @default.
• W2122302303 hasLocation W21223023031 @default.
• W2122302303 hasLocation W21223023032 @default.
• W2122302303 hasOpenAccess W2122302303 @default.
• W2122302303 hasPrimaryLocation W21223023031 @default.
• W2122302303 hasRelatedWork W1591206419 @default.
• W2122302303 hasRelatedWork W187294481 @default.
• W2122302303 hasRelatedWork W1968049540 @default.
• W2122302303 hasRelatedWork W2055548353 @default.
• W2122302303 hasRelatedWork W2066993214 @default.
• W2122302303 hasRelatedWork W2116572532 @default.

• next