Matches in SemOpenAlex for { <https://semopenalex.org/work/W2266215176> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2266215176 abstract "This report describes a 32-year-old woman presenting since childhood with progressive calcium pyrophosphate disease (CPPD), characterized by severe arthropathy and chondrocalcinosis involving multiple peripheral joints and intervertebral disks. Because ANKH mutations have been previously described in familial CPPD, the proband's DNA was assessed at this locus by direct sequencing of promoter and coding regions and revealed 3 sequence variants in ANKH. Sequences of exon 1 revealed a novel isolated nonsynonymous mutation (c.13 C>T), altering amino acid in codon 5 from proline to serine (CCG>TCG). Sequencing of parental DNA revealed an identical mutation in the proband's father but not the mother. Subsequent clinical evaluation demonstrated extensive chondrocalcinosis and degenerative arthropathy in the proband's father. In summary, we report a novel mutation, not previously described, in ANKH exon 1, wherein serine replaces proline, in a case of early-onset severe CPPD associated with metabolic abnormalities, with similar findings in the proband's father." @default.
- W2266215176 created "2016-06-24" @default.
- W2266215176 creator A5008905531 @default.
- W2266215176 creator A5062224655 @default.
- W2266215176 creator A5062933885 @default.
- W2266215176 creator A5079824415 @default.
- W2266215176 creator A5085917740 @default.
- W2266215176 creator A5091132026 @default.
- W2266215176 date "2012-01-01" @default.
- W2266215176 modified "2023-09-26" @default.
- W2266215176 title "Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia" @default.
- W2266215176 hasPublicationYear "2012" @default.
- W2266215176 type Work @default.
- W2266215176 sameAs 2266215176 @default.
- W2266215176 citedByCount "0" @default.
- W2266215176 crossrefType "journal-article" @default.
- W2266215176 hasAuthorship W2266215176A5008905531 @default.
- W2266215176 hasAuthorship W2266215176A5062224655 @default.
- W2266215176 hasAuthorship W2266215176A5062933885 @default.
- W2266215176 hasAuthorship W2266215176A5079824415 @default.
- W2266215176 hasAuthorship W2266215176A5085917740 @default.
- W2266215176 hasAuthorship W2266215176A5091132026 @default.
- W2266215176 hasConcept C104317684 @default.
- W2266215176 hasConcept C126322002 @default.
- W2266215176 hasConcept C142724271 @default.
- W2266215176 hasConcept C188997412 @default.
- W2266215176 hasConcept C204787440 @default.
- W2266215176 hasConcept C2776164576 @default.
- W2266215176 hasConcept C2778155236 @default.
- W2266215176 hasConcept C2780608848 @default.
- W2266215176 hasConcept C36823959 @default.
- W2266215176 hasConcept C501734568 @default.
- W2266215176 hasConcept C519063684 @default.
- W2266215176 hasConcept C54355233 @default.
- W2266215176 hasConcept C71924100 @default.
- W2266215176 hasConcept C75563809 @default.
- W2266215176 hasConcept C86803240 @default.
- W2266215176 hasConceptScore W2266215176C104317684 @default.
- W2266215176 hasConceptScore W2266215176C126322002 @default.
- W2266215176 hasConceptScore W2266215176C142724271 @default.
- W2266215176 hasConceptScore W2266215176C188997412 @default.
- W2266215176 hasConceptScore W2266215176C204787440 @default.
- W2266215176 hasConceptScore W2266215176C2776164576 @default.
- W2266215176 hasConceptScore W2266215176C2778155236 @default.
- W2266215176 hasConceptScore W2266215176C2780608848 @default.
- W2266215176 hasConceptScore W2266215176C36823959 @default.
- W2266215176 hasConceptScore W2266215176C501734568 @default.
- W2266215176 hasConceptScore W2266215176C519063684 @default.
- W2266215176 hasConceptScore W2266215176C54355233 @default.
- W2266215176 hasConceptScore W2266215176C71924100 @default.
- W2266215176 hasConceptScore W2266215176C75563809 @default.
- W2266215176 hasConceptScore W2266215176C86803240 @default.
- W2266215176 hasLocation W22662151761 @default.
- W2266215176 hasOpenAccess W2266215176 @default.
- W2266215176 hasPrimaryLocation W22662151761 @default.
- W2266215176 hasRelatedWork W1968360064 @default.
- W2266215176 hasRelatedWork W1977645974 @default.
- W2266215176 hasRelatedWork W1986702099 @default.
- W2266215176 hasRelatedWork W1994978287 @default.
- W2266215176 hasRelatedWork W1996268768 @default.
- W2266215176 hasRelatedWork W2004023415 @default.
- W2266215176 hasRelatedWork W2015306232 @default.
- W2266215176 hasRelatedWork W2029529197 @default.
- W2266215176 hasRelatedWork W2071399987 @default.
- W2266215176 hasRelatedWork W2131697992 @default.
- W2266215176 hasRelatedWork W2146078889 @default.
- W2266215176 hasRelatedWork W2151054608 @default.
- W2266215176 hasRelatedWork W2240940238 @default.
- W2266215176 hasRelatedWork W2348839479 @default.
- W2266215176 hasRelatedWork W2387534275 @default.
- W2266215176 hasRelatedWork W2561869444 @default.
- W2266215176 hasRelatedWork W276405702 @default.
- W2266215176 hasRelatedWork W2990610391 @default.
- W2266215176 hasRelatedWork W62170980 @default.
- W2266215176 hasRelatedWork W90506180 @default.
- W2266215176 isParatext "false" @default.
- W2266215176 isRetracted "false" @default.
- W2266215176 magId "2266215176" @default.
- W2266215176 workType "article" @default.