FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020566676> ?p ?o ?g. }

• W2020566676 endingPage "383" @default.
• W2020566676 startingPage "378" @default.
• W2020566676 abstract "Heterozygous mutations at the splice-donor site of inron 3 of the GH-1 gene are known to affect growth hormone (GH) mRNA splicing and cause isolated GH deficiency (IGHD), which is inherited in an autosomal dominant trait. We report here a novel and de novo heterozygous IVS3 + 6T --> G mutation of the GH-1 gene in a Japanese patient with IGHD. RT-PCR analyses of the GH-1 minigene transcripts demonstrated that the IVS3 + 6T --> G mutation causes complete skipping of exon 3. We found a heterozygous IVS4 + 18G --> T polymorphism of the GH-1 gene in the patient, which was shared by the father, but not by the mother. Sequencing of individual alleles of the patient's GH-1 gene confirmed that the IVS3 + 6T --> G mutation and the IVS4 + 18G --> T polymorphism exist on the same chromosome. These findings indicate that the IVS3 + 6T --> G mutation arose in a germ cell of the father and caused IGHD in the patient." @default.
• W2020566676 created "2016-06-24" @default.
• W2020566676 creator A5016055552 @default.
• W2020566676 creator A5044760409 @default.
• W2020566676 creator A5046710419 @default.
• W2020566676 creator A5051577861 @default.
• W2020566676 date "2001-12-01" @default.
• W2020566676 modified "2023-09-28" @default.
• W2020566676 title "A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency" @default.
• W2020566676 cites W1966163957 @default.
• W2020566676 cites W1978086203 @default.
• W2020566676 cites W1983954245 @default.
• W2020566676 cites W1988660886 @default.
• W2020566676 cites W1991063438 @default.
• W2020566676 cites W2013378238 @default.
• W2020566676 cites W2030761183 @default.
• W2020566676 cites W2032118018 @default.
• W2020566676 cites W2048887031 @default.
• W2020566676 cites W2052978542 @default.
• W2020566676 cites W2052990213 @default.
• W2020566676 cites W2055127681 @default.
• W2020566676 cites W2066985307 @default.
• W2020566676 cites W2076104915 @default.
• W2020566676 cites W2077031940 @default.
• W2020566676 cites W2078558128 @default.
• W2020566676 cites W2080605031 @default.
• W2020566676 cites W2141370108 @default.
• W2020566676 doi "https://doi.org/10.1054/ghir.2001.0251" @default.
• W2020566676 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11914025" @default.
• W2020566676 hasPublicationYear "2001" @default.
• W2020566676 type Work @default.
• W2020566676 sameAs 2020566676 @default.
• W2020566676 citedByCount "17" @default.
• W2020566676 countsByYear W20205666762014 @default.
• W2020566676 countsByYear W20205666762016 @default.
• W2020566676 crossrefType "journal-article" @default.
• W2020566676 hasAuthorship W2020566676A5016055552 @default.
• W2020566676 hasAuthorship W2020566676A5044760409 @default.
• W2020566676 hasAuthorship W2020566676A5046710419 @default.
• W2020566676 hasAuthorship W2020566676A5051577861 @default.
• W2020566676 hasConcept C104317684 @default.
• W2020566676 hasConcept C134018914 @default.
• W2020566676 hasConcept C153911025 @default.
• W2020566676 hasConcept C166342232 @default.
• W2020566676 hasConcept C180754005 @default.
• W2020566676 hasConcept C194583182 @default.
• W2020566676 hasConcept C2779430528 @default.
• W2020566676 hasConcept C2779952775 @default.
• W2020566676 hasConcept C2984496839 @default.
• W2020566676 hasConcept C36823959 @default.
• W2020566676 hasConcept C501734568 @default.
• W2020566676 hasConcept C54355233 @default.
• W2020566676 hasConcept C62257209 @default.
• W2020566676 hasConcept C71315377 @default.
• W2020566676 hasConcept C86803240 @default.
• W2020566676 hasConcept C94671646 @default.
• W2020566676 hasConceptScore W2020566676C104317684 @default.
• W2020566676 hasConceptScore W2020566676C134018914 @default.
• W2020566676 hasConceptScore W2020566676C153911025 @default.
• W2020566676 hasConceptScore W2020566676C166342232 @default.
• W2020566676 hasConceptScore W2020566676C180754005 @default.
• W2020566676 hasConceptScore W2020566676C194583182 @default.
• W2020566676 hasConceptScore W2020566676C2779430528 @default.
• W2020566676 hasConceptScore W2020566676C2779952775 @default.
• W2020566676 hasConceptScore W2020566676C2984496839 @default.
• W2020566676 hasConceptScore W2020566676C36823959 @default.
• W2020566676 hasConceptScore W2020566676C501734568 @default.
• W2020566676 hasConceptScore W2020566676C54355233 @default.
• W2020566676 hasConceptScore W2020566676C62257209 @default.
• W2020566676 hasConceptScore W2020566676C71315377 @default.
• W2020566676 hasConceptScore W2020566676C86803240 @default.
• W2020566676 hasConceptScore W2020566676C94671646 @default.
• W2020566676 hasIssue "6" @default.
• W2020566676 hasLocation W20205666761 @default.
• W2020566676 hasLocation W20205666762 @default.
• W2020566676 hasOpenAccess W2020566676 @default.
• W2020566676 hasPrimaryLocation W20205666761 @default.
• W2020566676 hasRelatedWork W1488584185 @default.
• W2020566676 hasRelatedWork W1964052811 @default.
• W2020566676 hasRelatedWork W1966163957 @default.
• W2020566676 hasRelatedWork W1985536839 @default.
• W2020566676 hasRelatedWork W1988660886 @default.
• W2020566676 hasRelatedWork W1991063438 @default.
• W2020566676 hasRelatedWork W1991895816 @default.
• W2020566676 hasRelatedWork W2052978542 @default.
• W2020566676 hasRelatedWork W2066985307 @default.
• W2020566676 hasRelatedWork W2071581044 @default.
• W2020566676 hasRelatedWork W2080605031 @default.
• W2020566676 hasRelatedWork W2092774801 @default.
• W2020566676 hasRelatedWork W2107964493 @default.
• W2020566676 hasRelatedWork W2127022091 @default.
• W2020566676 hasRelatedWork W2138351591 @default.
• W2020566676 hasRelatedWork W2141370108 @default.
• W2020566676 hasRelatedWork W2146577466 @default.
• W2020566676 hasRelatedWork W2160085377 @default.
• W2020566676 hasRelatedWork W2170902077 @default.
• W2020566676 hasRelatedWork W2331215294 @default.
• W2020566676 hasVolume "11" @default.

• next