FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2174720439> ?p ?o ?g. }

• W2174720439 endingPage "202" @default.
• W2174720439 startingPage "196" @default.
• W2174720439 abstract "Harlequin ichthyosis (HI), one of the most severe genetic skin disorders, is autosomal recessively inherited. Mutations in ABCA12, which encodes ATP-binding cassette transporter A12 (ABCA12), are known to be the cause of HI. It is very difficult to make precise genetic diagnosis when an exon deletion mutation overlaps the site of another causative point mutation. This combination of mutations may lead us to conclude incorrectly that the patient has the point mutation homozygously, a phenomenon called apparent homozygosity.To demonstrate that the present HI patient has apparent homozygosity in ABCA12 mutations.We performed direct sequencing of gDNA in the entire coding region, including exon-intron boundaries, of ABCA12 in the HI patient and her parents. To further elucidate the mutations in the patient, parental mutation segregation study was done and SNP analysis was conducted on the region flanking ABCA12 in the patients and her parents. Quantitative PCR of gDNA in exon 11 of ABCA12 was also performed. Direct sequencing of cDNA from exon 9 to exon 13 and of gDNA between intron 9 and intron 11 of ABCA12 was done in the HI patient and her parents.Direct sequencing of gDNA in the entire coding region, including exon-intron boundaries, of ABCA12 seemed to indicate that the patient had the novel homozygous nonsense mutation c.1216A>T (p.Lys406X) in exon 11. However, mutation segregation analysis, SNP analysis, qRTPCR of gDNA in exon 11 of ABCA12 and direct sequencing of cDNA from exon 9 to exon 12 of ABCA12 and of gDNA between intron 9 and intron 11 of ABCA12 in the HI patient and her parents demonstrated that the present patient was compound heterozygous for two ABCA12 mutations: c.1216A>T (p.Lys406X) in exon 11 and g.111346_113217del1872 (p.Leu355_Lys428del, Gln354fs7*) which was overlapping exon deletion mutations involving exons 10 and 11.When direct sequencing indicates that a patient from a non-consanguineous family has an apparently homozygous non-founder point mutation, the homozygosity may be apparent homozygosity, and we should keep in mind the possibility of overlapping exon deletion mutation." @default.
• W2174720439 created "2016-06-24" @default.
• W2174720439 creator A5020871719 @default.
• W2174720439 creator A5031739854 @default.
• W2174720439 creator A5037589641 @default.
• W2174720439 creator A5057449137 @default.
• W2174720439 creator A5073117349 @default.
• W2174720439 date "2015-12-01" @default.
• W2174720439 modified "2023-09-26" @default.
• W2174720439 title "Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall" @default.
• W2174720439 cites W1966801381 @default.
• W2174720439 cites W1970202965 @default.
• W2174720439 cites W1978727252 @default.
• W2174720439 cites W1979250096 @default.
• W2174720439 cites W1989623469 @default.
• W2174720439 cites W1993071936 @default.
• W2174720439 cites W1995003624 @default.
• W2174720439 cites W1996877114 @default.
• W2174720439 cites W1999726690 @default.
• W2174720439 cites W2005958314 @default.
• W2174720439 cites W2007214149 @default.
• W2174720439 cites W2038088245 @default.
• W2174720439 cites W2039787241 @default.
• W2174720439 cites W2071514946 @default.
• W2174720439 cites W2086527897 @default.
• W2174720439 cites W2092843954 @default.
• W2174720439 cites W2110607411 @default.
• W2174720439 cites W2127306407 @default.
• W2174720439 cites W2140744545 @default.
• W2174720439 cites W2158531928 @default.
• W2174720439 doi "https://doi.org/10.1016/j.jdermsci.2015.10.003" @default.
• W2174720439 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26475431" @default.
• W2174720439 hasPublicationYear "2015" @default.
• W2174720439 type Work @default.
• W2174720439 sameAs 2174720439 @default.
• W2174720439 citedByCount "8" @default.
• W2174720439 countsByYear W21747204392014 @default.
• W2174720439 countsByYear W21747204392017 @default.
• W2174720439 countsByYear W21747204392019 @default.
• W2174720439 countsByYear W21747204392020 @default.
• W2174720439 countsByYear W21747204392022 @default.
• W2174720439 countsByYear W21747204392023 @default.
• W2174720439 crossrefType "journal-article" @default.
• W2174720439 hasAuthorship W2174720439A5020871719 @default.
• W2174720439 hasAuthorship W2174720439A5031739854 @default.
• W2174720439 hasAuthorship W2174720439A5037589641 @default.
• W2174720439 hasAuthorship W2174720439A5057449137 @default.
• W2174720439 hasAuthorship W2174720439A5073117349 @default.
• W2174720439 hasConcept C104317684 @default.
• W2174720439 hasConcept C176944494 @default.
• W2174720439 hasConcept C17757408 @default.
• W2174720439 hasConcept C194583182 @default.
• W2174720439 hasConcept C36823959 @default.
• W2174720439 hasConcept C39917842 @default.
• W2174720439 hasConcept C501734568 @default.
• W2174720439 hasConcept C54355233 @default.
• W2174720439 hasConcept C62257209 @default.
• W2174720439 hasConcept C86803240 @default.
• W2174720439 hasConcept C94671646 @default.
• W2174720439 hasConceptScore W2174720439C104317684 @default.
• W2174720439 hasConceptScore W2174720439C176944494 @default.
• W2174720439 hasConceptScore W2174720439C17757408 @default.
• W2174720439 hasConceptScore W2174720439C194583182 @default.
• W2174720439 hasConceptScore W2174720439C36823959 @default.
• W2174720439 hasConceptScore W2174720439C39917842 @default.
• W2174720439 hasConceptScore W2174720439C501734568 @default.
• W2174720439 hasConceptScore W2174720439C54355233 @default.
• W2174720439 hasConceptScore W2174720439C62257209 @default.
• W2174720439 hasConceptScore W2174720439C86803240 @default.
• W2174720439 hasConceptScore W2174720439C94671646 @default.
• W2174720439 hasFunder F4320320912 @default.
• W2174720439 hasFunder F4320321945 @default.
• W2174720439 hasIssue "3" @default.
• W2174720439 hasLocation W21747204391 @default.
• W2174720439 hasLocation W21747204392 @default.
• W2174720439 hasOpenAccess W2174720439 @default.
• W2174720439 hasPrimaryLocation W21747204391 @default.
• W2174720439 hasRelatedWork W1524466628 @default.
• W2174720439 hasRelatedWork W1533351568 @default.
• W2174720439 hasRelatedWork W1588057732 @default.
• W2174720439 hasRelatedWork W1819686035 @default.
• W2174720439 hasRelatedWork W2044648485 @default.
• W2174720439 hasRelatedWork W2069571837 @default.
• W2174720439 hasRelatedWork W2070620312 @default.
• W2174720439 hasRelatedWork W2076132888 @default.
• W2174720439 hasRelatedWork W2094710038 @default.
• W2174720439 hasRelatedWork W2994084797 @default.
• W2174720439 hasVolume "80" @default.
• W2174720439 isParatext "false" @default.
• W2174720439 isRetracted "false" @default.
• W2174720439 magId "2174720439" @default.
• W2174720439 workType "article" @default.