(Q74127603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author

Ann-Christine Syvänen

4

object named as

A C Syvänen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

L Karttunen

1

1 reference

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9 November 2019

T Ukkonen

2

1 reference

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9 November 2019

K Kainulainen

3

1 reference

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9 November 2019

L Peltonen

5

1 reference

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9 November 2019

publication date

1 January 1998

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9 November 2019

1 reference

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9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S34-7

1 reference

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Optimal conditions for directly sequencing double-stranded PCR products with sequenase

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Effect of 5' splice site mutations on splicing of the preceding intron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Stop making sense: or Regulation at the level of termination in eukaryotic protein synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110112

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference