(Q41501153)

1 October 2017

title

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH). (English)

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1 October 2017

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Tieu PT

1

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1 October 2017

Menon K

series ordinal

2

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1 October 2017

Neufeld EF

series ordinal

3

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1 October 2017

publication date

1 January 1994

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1 October 2017

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1 October 2017

volume

3

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1 October 2017

issue

3

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1 October 2017

page(s)

333-336

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Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Possible evolution of splice-junction signals in eukaryotic genes from stop codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030330

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030330

1 reference

1 October 2017

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